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.V525_Q526insFs

c.1575_1576insT

Surrounding Variants

9 papers

NM_007294.4

p.Q526*

c.1576C>T

1 paper

NM_007294.4

p.Q526K

c.1576C>A

5 papers

NM_007294.4

p.V525delFs

c.1575delA

1 paper

NM_007294.4

p.Q526fs

c.1576_1577fs

16 papers

NM_007294.4

p.V525V

c.1575T>C

1 paper

NM_007294.4

p.V525V

c.1575T>A

1 paper

NM_007294.4

p.Q526P

c.1577A>C

4 papers

NM_007294.4

p.V525A

c.1574T>C

2 papers

NM_007294.4

p.Q526Q

c.1578A>G

1 paper

NM_007294.4

p.V525F

c.1573G>T

2 papers

NM_007294.4

p.V525_Q526insC

c.1573_1577ins3

1 paper

NM_007294.4

p.V525L

c.1573G>C