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

151 papers

NM_007294.4

p.Q1111_E1112delFs

c.3331_3334del4

Surrounding Variants

1 paper

NM_007294.4

p.E1112A

c.3335A>C

3 papers

NM_007294.4

p.E1112*

c.3334G>T

1 paper

NM_007294.4

p.E1112Q

c.3334G>C

2 papers

NM_007294.4

p.E1112K

c.3334G>A

22 papers

NM_007294.4

p.Q1111delFs

c.3333delT

1 paper

NM_007294.4

p.Q1111del1

c.3331_3332delTTG

2 papers

NM_007294.4

p.K1109_Q1111del0

c.3325_3333del9

4 papers

NM_007294.4

p.E1112fs

c.3334_3335fs

12 papers

NM_007294.4

p.E1112fs

c.3334_3335fs

2 papers

NM_007294.4

p.K1110_E1112del0

c.3330_3335del6

1 paper

NM_007294.4

p.Y1113H

c.3337T>C

1 paper

NM_007294.4

p.E1112delFs

c.3336delT