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.E565E

c.1695G>A

Surrounding Variants

2 papers

NM_007294.4

p.E565D

c.1695G>T

1 paper

NM_007294.4

p.E565fs

c.1693_1694fs

1 paper

NM_007294.4

p.E565D

c.1695G>C

1 paper

NM_007294.4

p.E565delFs

c.1694delT

1 paper

NM_007294.4

p.Q563_N564delFs

c.1689_1692del4

1 paper

NM_007294.4

p.K566E

c.1696A>G

1 paper

NM_007294.4

p.E565G

c.1694A>G

1 paper

NM_007294.4

p.E565A

c.1694A>C

7 papers

NM_007294.4

p.E565_K566insFs

c.1695_1696insG

2 papers

NM_007294.4

p.K566_N567insA

c.1696_1700ins3

1 paper

NM_007294.4

p.K566fs

c.1696_1697fs

4 papers

NM_007294.4

p.E565*

c.1693G>T