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

2 papers

NM_007294.4

p.E761A

c.2282A>C

Surrounding Variants

1 paper

NM_007294.4

p.T760_E761delFs

c.2280_2281delCA

2 papers

NM_007294.4

p.E761*

c.2281G>T

7 papers

NM_007294.4

p.E761Q

c.2281G>C

2 papers

NM_007294.4

p.E761K

c.2281G>A

1 paper

NM_007294.4

p.T760delFs

c.2279_2280delAG

1 paper

NM_007294.4

p.D749_T760delFs

c.2246_2280del35

2 papers

NM_007294.4

p.E761D

c.2283A>T

1 paper

NM_007294.4

p.E761E

c.2283A>G

2 papers

NM_007294.4

p.E761D

c.2283A>C

1 paper

NM_007294.4

p.E761fs

c.2281_2282fs

2 papers

NM_007294.4

p.T760fs

c.2278_2279fs

1 paper

NM_007294.4

p.T760T

c.2280T>G