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

72 papers

NM_007294.4

p.C1697R

c.5089T>C

Surrounding Variants

5 papers

NM_007294.4

p.C1697G

c.5089T>G

8 papers

NM_007294.4

p.C1697S

c.5089T>A

4 papers

NM_007294.4

p.C1697fs

c.5089_5090fs

12 papers

NM_007294.4

p.C1697F

c.5090G>T

6 papers

NM_007294.4

p.C1697S

c.5090G>C

23 papers

NM_007294.4

p.C1697Y

c.5090G>A

1 paper

NM_007300.4

p.V1717delFs

c.5150delA

1 paper

NM_007294.4

p.F1695_V1696delFs

c.5084_5087del4

2 papers

NM_007294.4

p.C1697fs

c.5089_5090fs

6 papers

NM_007294.4

p.V1696G

c.5087T>G

5 papers

NM_007294.4

p.C1697W

c.5091T>G

9 papers

NM_007294.4

p.V1696A

c.5087T>C