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

6 papers

NM_007294.4

p.V11E

c.32T>A

Surrounding Variants

1 paper

NM_007294.4

p.V11insFs

c.32_33ins4

1 paper

NM_007294.4

p.V11insFs

c.32_33insC

16 papers

NM_007294.4

p.V11G

c.32T>G

20 papers

NM_007294.4

p.V11A

c.32T>C

1 paper

NM_007294.4

p.E10_V11delFs

c.30_31delCT

1 paper

NM_007294.4

p.M1_V11delFs

c.1_31del31

8 papers

NM_007294.4

p.V11L

c.31G>T

1 paper

NM_007294.4

p.V11ins4

c.31_32ins12

4 papers

NM_007294.4

p.E10insFs

c.29_30insA

9 papers

NM_007294.4

p.V11L

c.31G>C

10 papers

NM_007294.4

p.V11I

c.31G>A

2 papers

NM_007294.4

p.E10delFs

c.29delT