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.G948_G949delFs

c.2844_2845delCT

Surrounding Variants

7 papers

NM_007294.4

p.G949insFs

c.2846_2847insA

1 paper

NM_007294.4

p.G949D

c.2846G>A

1 paper

NM_007294.4

p.S945_G948delFs

c.2833_2843del11

1 paper

NM_007294.4

p.G949C

c.2845G>T

2 papers

NM_007294.4

p.G949insFs

c.2845_2846insT

17 papers

NM_007294.4

p.G949insFs

c.2845_2846insA

2 papers

NM_007294.4

p.G949S

c.2845G>A

1 paper

NM_007294.4

p.S945_G948del4

c.2833_2843del12

2 papers

NM_007294.4

p.G949G

c.2847C>T

1 paper

NM_007294.4

p.G949fs

c.2845_2846fs

4 papers

NM_007294.4

p.G949delFs

c.2845delC

1 paper

NM_007294.4

p.G949fs

c.2845_2846fs