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.S1551C

c.4652C>G

Surrounding Variants

1 paper

NM_007294.4

p.S1551F

c.4652C>T

1 paper

NM_007294.4

p.S1551fs

c.4651_4652fs

2 papers

NM_007294.4

p.S1551S

c.4653T>C

2 papers

NM_007294.4

p.T1550delFs

c.4650delT

1 paper

NM_007294.4

p.T1550delFs

c.4649_4650delTG

1 paper

NM_007294.4

p.T1548_T1550delFs

c.4643_4650del8

1 paper

NM_007294.4

p.P1544_T1550del7

c.4630_4649del21

1 paper

NM_007294.4

p.Y1552insFs

c.4654_4655insG

1 paper

NM_007294.4

p.Y1552insFs

c.4654_4655insC

7 papers

NM_007294.4

p.Y1552H

c.4654T>C

3 papers

NM_007294.4

p.Y1552fs

c.4654_4655fs

11 papers

NM_007294.4

p.T1550I

c.4649C>T