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

111 papers

NM_007294.4

p.W1815*

c.5444G>A

NM_007300.4

p.W1836*

c.5507G>A

Surrounding Variants

1 paper

NM_007294.4

p.W1815L

c.5444G>T

6 papers

NM_007294.4

p.W1815S

c.5444G>C

1 paper

NM_007300.4

p.P1833_W1836delFs

c.5497_5506del10

18 papers

NM_007294.4

p.W1815G

c.5443T>G

4 papers

NM_007294.4

p.W1815R

c.5443T>C

8 papers

NM_007294.4

p.W1815R

c.5443T>A

1 paper

NM_007300.4

p.Q1832_W1836Fs

c.5496_5506delinsAFs

3 papers

NM_007294.4

p.W1815C

c.5445G>T

3 papers

NM_007294.4

p.W1815C

c.5445G>C

105 papers

NM_007294.4

p.W1815*

c.5445G>A

NM_007300.4

p.W1836*

c.5508G>A

2 papers

NM_007294.4

p.A1814fs

c.5440_5441fs

1 paper

NM_007300.4

p.V1831_D1834delFs

c.5493_5502del10