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.V409delFs

c.1227delT

Surrounding Variants

1 paper

NM_007294.4

p.A410fs

c.1228_1229fs

1 paper

NM_007294.4

p.A410P

c.1228G>C

2 papers

NM_007294.4

p.A410T

c.1228G>A

3 papers

NM_007294.4

p.V409V

c.1227A>G

1 paper

NM_007294.4

p.A410_D411insFs

c.1230_1231ins5

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

1 paper

NM_007294.4

p.D411fs

c.1231_1232fs

3 papers

NM_007294.4

p.V409L

c.1225G>T

2 papers

NM_007294.4

p.V409Fs

c.1225delinsTTTFs

2 papers

NM_007294.4

p.V409_A410insFs

c.1227_1230dup4