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.V1181A

c.3542T>C

Surrounding Variants

3 papers

NM_007294.4

p.S1180_V1181delFs

c.3540_3541delCG

2 papers

NM_007294.4

p.V1181F

c.3541G>T

2 papers

NM_007294.4

p.V1181L

c.3541G>C

33 papers

NM_007294.4

p.V1181I

c.3541G>A

1 paper

NM_007294.4

p.K1179_S1180del0

c.3535_3540del6

1 paper

NM_007294.4

p.F1177_S1180delFs

c.3530_3540del11

1 paper

NM_007294.4

p.V1181V

c.3543C>A

1 paper

NM_007294.4

p.V1181delFs

c.3541_3542delAC

2 papers

NM_007294.4

p.V1181fs

c.3541_3542fs

2 papers

NM_007294.4

p.V1176_S1180del5

c.3526_3539del15

2 papers

NM_007294.4

p.Q1182fs

c.3544_3545fs

25 papers

NM_007294.4

p.Q1182*

c.3544C>T