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.S395A

c.1183T>G

Surrounding Variants

1 paper

NM_007294.4

p.S395P

c.1183T>C

2 papers

NM_007294.4

p.S395T

c.1183T>A

2 papers

NM_007294.4

p.G394fs

c.1180_1181fs

2 papers

NM_007294.4

p.S395F

c.1184C>T

2 papers

NM_007294.4

p.S395insFs

c.1184_1185insA

4 papers

NM_007294.4

p.L393_S395delFs

c.1179_1183del5

1 paper

NM_007294.4

p.S395S

c.1185T>A

1 paper

NM_007294.4

p.G394V

c.1181G>T

7 papers

NM_007294.4

p.L393_G394insFs

c.1179_1180dupAG

5 papers

NM_007294.4

p.G394D

c.1181G>A

4 papers

NM_007294.4

p.G394fs

c.1180_1181fs

4 papers

NM_007294.4

p.D396fs

c.1186_1187fs