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

4 papers

NM_007294.4

p.E881K

c.2641G>A

Surrounding Variants

39 papers

NM_007294.4

p.E881*

c.2641G>T

1 paper

NM_007294.4

p.E879_E880delFs

c.2637_2638delCT

1 paper

NM_007294.4

p.E881fs

c.2641_2642fs

1 paper

NM_007294.4

p.E880D

c.2640G>T

1 paper

NM_007294.4

p.E880fs

c.2638_2639fs

1 paper

NM_007294.4

p.E880D

c.2640G>C

1 paper

NM_007294.4

p.E880E

c.2640G>A

1 paper

NM_007294.4

p.E881V

c.2642A>T

1 paper

NM_007294.4

p.E881G

c.2642A>G

1 paper

NM_007294.4

p.E881D

c.2643A>T

2 papers

NM_007294.4

p.E881E

c.2643A>G

1 paper

NM_007294.4

p.E880G

c.2639A>G