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.E1446G

c.4337A>G

Surrounding Variants

3 papers

NM_007294.4

p.E1446A

c.4337A>C

3 papers

NM_007294.4

p.E1446*

c.4336G>T

2 papers

NM_007294.4

p.E1446Q

c.4336G>C

2 papers

NM_007294.4

p.E1446D

c.4338A>T

1 paper

NM_007294.4

p.E1446E

c.4338A>G

2 papers

NM_007294.4

p.E1446D

c.4338A>C

1 paper

NM_007294.4

p.E1446_Q1447insFs

c.4338_4339ins4

2 papers

NM_007294.4

p.E1446_Q1447insFs

c.4338_4339ins4

13 papers

NM_007294.4

p.Q1447*

c.4339C>T

1 paper

NM_007294.4

p.Q1447_S1448ins4

c.4339_4343ins12

20 papers

NM_007294.4

p.P1445_E1446insFs

c.4335_4338dup4

8 papers

NM_007294.4

p.E1446_Q1447insFs

c.4338_4339ins4