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.V1842fs

c.5524_5525fs

Surrounding Variants

1 paper

NM_007294.4

p.V1842_A1843insT

c.5524_5528ins3

2 papers

NM_007294.4

p.V1842I

c.5524G>A

2 papers

NM_007297.4

p.S1794_V1795insFs

c.5382_5383insC

11 papers

NM_007294.4

p.S1841fs

c.5521_5522fs

20 papers

NM_007294.4

p.S1841R

c.5523T>G

1 paper

NM_007294.4

p.V1842A

c.5525T>C

1 paper

NM_007294.4

p.S1841S

c.5523T>C

20 papers

NM_007294.4

p.S1841R

c.5523T>A

3 papers

NM_007294.4

p.V1842E

c.5525T>A

1 paper

NM_007294.4

p.S1841delFs

c.5522delC

6 papers

NM_007294.4

p.W1837_V1842delFs

c.5511_5524del14

1 paper

NM_007294.4

p.S1841I

c.5522G>T