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

3 papers

NM_007294.4

p.S1174C

c.3521C>G

Surrounding Variants

2 papers

NM_007294.4

p.S1174F

c.3521C>T

1 paper

NM_007294.4

p.S1174Y

c.3521C>A

2 papers

NM_007294.4

p.S1174_A1175insFs

c.3522_3523insA

1 paper

NM_007294.4

p.S1173R

c.3519T>G

1 paper

NM_007294.4

p.A1175fs

c.3523_3524fs

1 paper

NM_007294.4

p.A1175T

c.3523G>A

1 paper

NM_007294.4

p.S1173I

c.3518G>T

3 papers

NM_007294.4

p.S1173N

c.3518G>A

4 papers

NM_007294.4

p.A1175V

c.3524C>T

1 paper

NM_007294.4

p.A1175G

c.3524C>G

1 paper

NM_007294.4

p.A1175fs

c.3523_3524fs

1 paper

NM_007294.4

p.A1175A

c.3525T>C