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

14 papers

NM_007294.4

p.G1803fs

c.5407_5408fs

Surrounding Variants

10 papers

NM_007294.4

p.G1803C

c.5407G>T

1 paper

NM_007294.4

p.G1803R

c.5407G>C

7 papers

NM_007294.4

p.G1803S

c.5407G>A

7 papers

NM_007294.4

p.G1803V

c.5408G>T

2 papers

NM_007294.4

p.T1802_G1803Splc

c.5407-1G>T

26 papers

NM_007294.4

p.G1803A

c.5408G>C

9 papers

NM_007294.4

p.T1802_G1803Splc

c.5407-1G>C

13 papers

NM_007294.4

p.T1802_G1803Splc

c.5407-1G>A

3 papers

NM_007294.4

p.G1803D

c.5408G>A

1 paper

NM_007294.4

p.G1803fs

c.5407_5408fs

1 paper

NM_007294.4

p.G1803G

c.5409T>G

1 paper

NM_007294.4

p.G1803G

c.5409T>A