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.T1816K

c.5447C>A

Surrounding Variants

2 papers

NM_007294.4

p.T1816I

c.5447C>T

2 papers

NM_007294.4

p.T1816R

c.5447C>G

2 papers

NM_007294.4

p.T1816insFs

c.5446dupA

1 paper

NM_007294.4

p.T1816S

c.5446A>T

1 paper

NM_007294.4

p.T1816A

c.5446A>G

1 paper

NM_007294.4

p.T1816P

c.5446A>C

8 papers

NM_007294.4

p.T1816_E1817insFs

c.5448_5449insC

3 papers

NM_007294.4

p.T1816delFs

c.5447delG

6 papers

NM_007294.4

p.E1817*

c.5449G>T

3 papers

NM_007294.4

p.W1815C

c.5445G>T

3 papers

NM_007294.4

p.W1815C

c.5445G>C

2 papers

NM_007294.4

p.E1817Q

c.5449G>C