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.G754R

c.2260G>A

Surrounding Variants

2 papers

NM_007294.4

p.G754*

c.2260G>T

1 paper

NM_007294.4

p.G754R

c.2260G>C

3 papers

NM_007294.4

p.S753delFs

c.2259delA

2 papers

NM_007294.4

p.L752_S753delFs

c.2255_2259del5

2 papers

NM_007294.4

p.L750_S753del4

c.2248_2258del12

1 paper

NM_007294.4

p.S753fs

c.2257_2258fs

2 papers

NM_007294.4

p.S753R

c.2259T>G

2 papers

NM_007294.4

p.S753R

c.2259T>A

1 paper

NM_007294.4

p.L752_S753del1

c.2256_2258delCTT

2 papers

NM_007294.4

p.G754E

c.2261G>A

1 paper

NM_007294.4

p.S753insFs

c.2257dupA

2 papers

NM_007294.4

p.S753T

c.2258G>C