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

3 papers

NM_007294.4

p.S1436P

c.4306T>C

Surrounding Variants

4 papers

NM_007294.4

p.S1436fs

c.4306_4307fs

1 paper

NM_007294.4

p.S1434_D1435del2

c.4300_4304del6

1 paper

NM_007294.4

p.D1435D

c.4305C>T

1 paper

NM_007294.4

p.D1435E

c.4305C>G

2 papers

NM_007294.4

p.S1436Y

c.4307C>A

1 paper

NM_007294.4

p.D1435E

c.4305C>A

1 paper

NM_007294.4

p.D1435delFs

c.4304delT

2 papers

NM_007294.4

p.S1436S

c.4308T>G

131 papers

NM_007294.4

p.S1436S

c.4308T>C

3 papers

NM_007294.4

p.S1436S

c.4308T>A

1 paper

NM_007294.4

p.D1435V

c.4304A>T

8 papers

NM_007294.4

p.D1435G

c.4304A>G