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.S1448S

c.4344C>T

Surrounding Variants

1 paper

NM_007294.4

p.S1448R

c.4344C>G

1 paper

NM_007294.4

p.S1448R

c.4344C>A

1 paper

NM_007294.4

p.S1448delFs

c.4343delC

1 paper

NM_007294.4

p.S1448delFs

c.4342_4343delCT

1 paper

NM_007294.4

p.S1448insFs

c.4342dupA

1 paper

NM_007294.4

p.S1448insFs

c.4342_4343ins4

9 papers

NM_007294.4

p.S1448T

c.4343G>C

11 papers

NM_007294.4

p.S1448N

c.4343G>A

2 papers

NM_007294.4

p.S1448delFs

c.4342delT

5 papers

NM_007294.4

p.N1444_Q1447del4

c.4330_4340del12

2 papers

NM_007294.4

p.T1449S

c.4345A>T

2 papers

NM_007294.4

p.E1446_S1448del3

c.4336_4343del9