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

4 papers

NM_007294.4

p.F1124L

c.3370T>C

Surrounding Variants

2 papers

NM_007294.4

p.F1124fs

c.3370_3371fs

2 papers

NM_007294.4

p.T1122_F1124insFs

c.3364_3370dup7

1 paper

NM_007294.4

p.F1124S

c.3371T>C

1 paper

NM_007294.4

p.F1124Y

c.3371T>A

2 papers

NM_007294.4

p.V1117_D1123delFs

c.3349_3368del20

1 paper

NM_007294.4

p.F1124F

c.3372C>T

4 papers

NM_007294.4

p.F1124L

c.3372C>G

2 papers

NM_007294.4

p.F1124_S1125insFs

c.3372_3373insA

4 papers

NM_007294.4

p.F1124L

c.3372C>A

3 papers

NM_007294.4

p.D1123V

c.3368A>T

3 papers

NM_007294.4

p.N1121_D1123delFs

c.3363_3367del5

2 papers

NM_007294.4

p.S1125insFs

c.3373_3374insA