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

5 papers

NM_007294.4

p.E1630G

c.4889A>G

Surrounding Variants

3 papers

NM_007294.4

p.E1630*

c.4888G>T

1 paper

NM_007294.4

p.E1630K

c.4888G>A

3 papers

NM_007294.4

p.E1629delFs

c.4887delT

1 paper

NM_007294.4

p.E1630fs

c.4888_4889fs

4 papers

NM_007294.4

p.E1630fs

c.4888_4889fs

1 paper

NM_007294.4

p.E1630delFs

c.4888_4889delTC

3 papers

NM_007294.4

p.S1631fs

c.4891_4892fs

5 papers

NM_007294.4

p.S1631C

c.4891A>T

8 papers

NM_007294.4

p.S1631G

c.4891A>G

5 papers

NM_007294.4

p.S1631R

c.4891A>C

2 papers

NM_007294.4

p.E1629fs

c.4885_4886fs

4 papers

NM_007294.4

p.E1629Fs

c.4886_4887delinsCFs