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.T77T

c.231G>C

Surrounding Variants

11 papers

NM_007294.4

p.T77T

c.231G>T

7 papers

NM_007294.4

p.T77T

c.231G>A

1 paper

NM_007294.4

p.T77delFs

c.230delG

1 paper

NM_007294.4

p.T77delFs

c.229_230delGT

1 paper

NM_007294.4

p.Q74_T77delFs

c.220_230del11

29 papers

NM_007294.4

p.T77M

c.230C>T

14 papers

NM_007294.4

p.T77R

c.230C>G

9 papers

NM_007294.4

p.T77K

c.230C>A

1 paper

NM_007294.4

p.T77delFs

c.229delT

8 papers

NM_007294.4

p.R78*

c.232A>T

11 papers

NM_007294.4

p.R78G

c.232A>G

5 papers

NM_007294.4

p.R78R

c.232A>C