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.3372C>A

Surrounding Variants

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

2 papers

NM_007294.4

p.T1122_F1124insFs

c.3364_3370dup7

2 papers

NM_007294.4

p.S1125insFs

c.3373_3374insA

2 papers

NM_007294.4

p.S1125P

c.3373T>C

1 paper

NM_007294.4

p.F1124S

c.3371T>C

2 papers

NM_007294.4

p.S1125T

c.3373T>A

1 paper

NM_007294.4

p.F1124Y

c.3371T>A

4 papers

NM_007294.4

p.F1124L

c.3370T>C

1 paper

NM_007294.4

p.S1125F

c.3374C>T

2 papers

NM_007294.4

p.S1125C

c.3374C>G