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.Q1144_P1150del0

c.3430_3450del21

Surrounding Variants

4 papers

NM_007294.4

p.D1151fs

c.3451_3452fs

1 paper

NM_007294.4

p.P1150insFs

c.3450dupT

3 papers

NM_007294.4

p.P1150delFs

c.3450delA

3 papers

NM_007294.4

p.P1150fs

c.3448_3449fs

2 papers

NM_007294.4

p.P1150delFs

c.3449delG

1 paper

NM_007294.4

p.D1151V

c.3452A>T

2 papers

NM_007294.4

p.D1151G

c.3452A>G

1 paper

NM_007294.4

p.D1151A

c.3452A>C

3 papers

NM_007294.4

p.D1151_D1152insFs

c.3453_3454ins5

1 paper

NM_007294.4

p.D1151E

c.3453T>G

1 paper

NM_007294.4

p.D1151E

c.3453T>A

4 papers

NM_007294.4

p.D1151delFs

c.3452delT