Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1162H

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger
zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)
BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT
BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain
BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007294.4
p.D1162H
c.3484G>C
Surrounding Variants
10 papers
NM_007294.4
p.D1162fs
c.3484_3485fs
3 papers
NM_007294.4
p.D1162Y
c.3484G>T
1 paper
NM_007294.4
p.D1162_T1163ins4
c.3484_3488ins12
2 papers
NM_007294.4
p.D1162N
c.3484G>A
16 papers
NM_007294.4
p.E1161fs
c.3481_3482fs
1 paper
NM_007294.4
p.E1161delFs
c.3481_3482delTC
8 papers
NM_007294.4
p.D1162fs
c.3484_3485fs
32 papers
NM_007294.4
p.D1162delFs
c.3485delT
2 papers
NM_007294.4
p.E1161G
c.3482A>G
2 papers
NM_007294.4
p.E1161A
c.3482A>C
2 papers
NM_007294.4
p.T1163fs
c.3487_3488fs
2 papers
NM_007294.4
p.E1161*
c.3481G>T
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