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.K408K

c.1224A>G

Surrounding Variants

2 papers

NM_007294.4

p.K408N

c.1224A>C

3 papers

NM_007294.4

p.V409L

c.1225G>T

2 papers

NM_007294.4

p.V409Fs

c.1225delinsTTTFs

3 papers

NM_007294.4

p.V409L

c.1225G>C

2 papers

NM_007294.4

p.V409I

c.1225G>A

16 papers

NM_007294.4

p.K408delFs

c.1224delT

1 paper

NM_007294.4

p.K408R

c.1223A>G

1 paper

NM_007294.4

p.K408T

c.1223A>C

5 papers

NM_007294.4

p.V409A

c.1226T>C

1 paper

NM_007294.4

p.V409delFs

c.1225delC

1 paper

NM_007294.4

p.E404_K408del5

c.1210_1223del15

3 papers

NM_007294.4

p.K408*

c.1222A>T