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

5 papers

NM_007294.4

p.S403F

c.1208C>T

Surrounding Variants

1 paper

NM_007294.4

p.S403C

c.1208C>G

2 papers

NM_007294.4

p.S403fs

c.1207_1208fs

1 paper

NM_007294.4

p.S403A

c.1207T>G

2 papers

NM_007294.4

p.S403P

c.1207T>C

1 paper

NM_007294.4

p.S403S

c.1209T>C

2 papers

NM_007294.4

p.S403T

c.1207T>A

2 papers

NM_007294.4

p.E402D

c.1206G>T

1 paper

NM_007294.4

p.E404*

c.1210G>T

2 papers

NM_007294.4

p.S403insFs

c.1209dupT

7 papers

NM_007294.4

p.E404insFs

c.1210_1211insCT

1 paper

NM_007294.4

p.E402_S403insFs

c.1206_1207insCC

2 papers

NM_007294.4

p.E402fs

c.1204_1205fs