FANCA R163H
Gene Variant Detail

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Gene FANCA
Variant R163H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FANCA R163H does not lie within any known functional domains of the Fanca protein (UniProt.org). R163H has been identified in sequencing studies (PMID: 28678401, PMID: 27334835, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2026).
Associated Drug Resistance
Category Variants Paths

FANCA mutant FANCA R163H

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Transcript NM_000135.4
gDNA chr16:g.89810741C>T
cDNA c.488G>A
Protein p.R163H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001286167.3 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_001286167 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_000135.4 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_001018112 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_017023046 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522945 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522948 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_001018112.2 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_000135.3 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_017023045.1 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_000135 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522945.2 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_005256294 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522948.2 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_017023044.2 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_001286167.2 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522947.2 chr16:g.89783062C>T c.488G>A p.R163H RefSeq GRCh38/hg38
NM_001018112.3 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522946.3 chr16:g.89783062C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522947 chr16:g.89783062C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_017023044 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_005256294.4 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_024450189.1 chr16:g.89783062C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_017023046.1 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_011522946 chr16:g.89783062C>T c.488G>A p.R163H RefSeq GRCh38/hg38
XM_017023045 chr16:g.89810741C>T c.488G>A p.R163H RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References