Varaico: Literature-Extracted Genetic Variants

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.I1275delFs

c.3824_3825delTA

Surrounding Variants

5 papers

NM_007294.4

p.L1276W

c.3827T>G

2 papers

NM_007294.4

p.L1276*

c.3827T>A

1 paper

NM_007294.4

p.I1275insFs

c.3825dupA

2 papers

NM_007294.4

p.L1276V

c.3826T>G

2 papers

NM_007294.4

p.L1276fs

c.3826_3827fs

1 paper

NM_007294.4

p.I1275_L1276del1

c.3825_3827delAAT

4 papers

NM_007294.4

p.A1277P

c.3829G>C

2 papers

NM_007294.4

p.I1275M

c.3825A>G

1 paper

NM_007294.4

p.I1275I

c.3825A>C

1 paper

NM_007294.4

p.I1275fs

c.3823_3824fs

1 paper

NM_007294.4

p.I1275delFs

c.3824delA

2 papers

NM_007294.4

p.A1277fs

c.3829_3830fs