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

7 papers

NM_007294.4

p.K1690E

c.5068A>G

Surrounding Variants

11 papers

NM_007294.4

p.K1690*

c.5068A>T

45 papers

NM_007294.4

p.K1690Q

c.5068A>C

NM_007297.4

p.K1643Q

c.4927A>C

1 paper

NM_007294.4

p.K1690fs

c.5068_5069fs

11 papers

NM_007294.4

p.M1689I

c.5067G>T

11 papers

NM_007294.4

p.M1689I

c.5067G>C

12 papers

NM_007294.4

p.M1689I

c.5067G>A

4 papers

NM_007294.4

p.K1690I

c.5069A>T

7 papers

NM_007294.4

p.K1690R

c.5069A>G

4 papers

NM_007294.4

p.K1690T

c.5069A>C

5 papers

NM_007294.4

p.M1689insFs

c.5065_5066insA

45 papers

NM_007294.4

p.M1689R

c.5066T>G

30 papers

NM_007294.4

p.M1689T

c.5066T>C