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.Q1408K

c.4222C>A

Surrounding Variants

2 papers

NM_007294.4

p.Q1408fs

c.4222_4223fs

38 papers

NM_007294.4

p.Q1408*

c.4222C>T

1 paper

NM_007294.4

p.Q1408_Q1409insG

c.4222_4226ins3

1 paper

NM_007294.4

p.K1406_L1407delFs

c.4218_4221del4

1 paper

NM_007294.4

p.Q1408L

c.4223A>T

5 papers

NM_007294.4

p.Q1408R

c.4223A>G

2 papers

NM_007294.4

p.Q1408P

c.4223A>C

1 paper

NM_007294.4

p.Q1408delins

c.4222_4223delinsTT

2 papers

NM_007294.4

p.L1407insFs

c.4220_4221ins4

5 papers

NM_007294.4

p.L1407R

c.4220T>G

45 papers

NM_007294.4

p.L1407P

c.4220T>C

3 papers

NM_007294.4

p.L1407H

c.4220T>A