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.L1407insFs

c.4220_4221ins4

Surrounding Variants

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

1 paper

NM_007294.4

p.K1406_L1407delFs

c.4216_4219del4

2 papers

NM_007294.4

p.L1407F

c.4219C>T

1 paper

NM_007294.4

p.L1407V

c.4219C>G

2 papers

NM_007294.4

p.L1407fs

c.4219_4220fs

3 papers

NM_007294.4

p.K1406delFs

c.4218delC

6 papers

NM_007294.4

p.K1406N

c.4218G>T

2 papers

NM_007294.4

p.K1406fs

c.4216_4217fs

1 paper

NM_007294.4

p.K1406insFs

c.4217dupA

6 papers

NM_007294.4

p.K1406N

c.4218G>C