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.T760I

c.2279C>T

Surrounding Variants

7 papers

NM_007294.4

p.Q759insFs

c.2276dupA

2 papers

NM_007294.4

p.Q759delFs

c.2276delT

1 paper

NM_007294.4

p.Q759delFs

c.2276_2277delTT

1 paper

NM_007294.4

p.R756_Q759del4

c.2266_2276del12

2 papers

NM_007294.4

p.T760fs

c.2278_2279fs

1 paper

NM_007294.4

p.T760T

c.2280T>G

1 paper

NM_007294.4

p.T760delFs

c.2278_2279delGT

2 papers

NM_007294.4

p.T760S

c.2278A>T

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