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

1 paper

NM_007294.4

p.M594insFs

c.1781_1782insT

Surrounding Variants

5 papers

NM_007294.4

p.M594T

c.1781T>C

1 paper

NM_007294.4

p.M594delFs

c.1780delT

1 paper

NM_007294.4

p.E595*

c.1783G>T

1 paper

NM_007294.4

p.E595Q

c.1783G>C

1 paper

NM_007294.4

p.E595K

c.1783G>A

2 papers

NM_007294.4

p.M594fs

c.1780_1781fs

1 paper

NM_007294.4

p.M594L

c.1780A>T

3 papers

NM_007294.4

p.E595G

c.1784A>G

3 papers

NM_007294.4

p.M594V

c.1780A>G

1 paper

NM_007294.4

p.M594L

c.1780A>C

1 paper

NM_007294.4

p.M594insFs

c.1780_1781insT

1 paper

NM_007294.4

p.M594_E595ins5

c.1780_1784ins15