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.K1406_L1407insA

c.4216_4220ins3

Surrounding Variants

4 papers

NM_007294.4

p.K1406fs

c.4216_4217fs

4 papers

NM_007294.4

p.K1406*

c.4216A>T

1 paper

NM_007294.4

p.K1406Q

c.4216A>C

1 paper

NM_007294.4

p.L1404_I1405del2

c.4210_4214del6

1 paper

NM_007294.4

p.I1405I

c.4215A>T

3 papers

NM_007294.4

p.I1405M

c.4215A>G

2 papers

NM_007294.4

p.K1406R

c.4217A>G

2 papers

NM_007294.4

p.I1405insFs

c.4214dupT

3 papers

NM_007294.4

p.I1405fs

c.4213_4214fs

4 papers

NM_007294.4

p.I1405delFs

c.4214delA

3 papers

NM_007294.4

p.I1405T

c.4214T>C

6 papers

NM_007294.4

p.K1406N

c.4218G>T