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.E1817E

c.5451G>A

Surrounding Variants

5 papers

NM_007294.4

p.E1817D

c.5451G>T

1 paper

NM_007294.4

p.E1817D

c.5451G>C

1 paper

NM_007294.4

p.D1818Y

c.5452G>T

1 paper

NM_007294.4

p.D1818H

c.5452G>C

4 papers

NM_007294.4

p.D1818N

c.5452G>A

1 paper

NM_007294.4

p.E1817delFs

c.5450_5451delCT

1 paper

NM_007294.4

p.D1818fs

c.5452_5453fs

1 paper

NM_007294.4

p.E1817V

c.5450A>T

2 papers

NM_007294.4

p.E1817G

c.5450A>G

1 paper

NM_007294.4

p.E1817A

c.5450A>C

6 papers

NM_007294.4

p.E1817*

c.5449G>T

2 papers

NM_007294.4

p.E1817Q

c.5449G>C