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.E902insFs

c.2704dupG

Surrounding Variants

3 papers

NM_007294.4

p.E902G

c.2705A>G

1 paper

NM_007294.4

p.T900_E902ins1

c.2699_2704dup6

1 paper

NM_007294.4

p.E902insFs

c.2705_2706ins5

2 papers

NM_007294.4

p.E902delFs

c.2704delC

1 paper

NM_007294.4

p.E902*

c.2704G>T

2 papers

NM_007294.4

p.E902_C903insT

c.2704_2708ins3

4 papers

NM_007294.4

p.E902Q

c.2704G>C

4 papers

NM_007294.4

p.E902K

c.2704G>A

6 papers

NM_007294.4

p.F901delFs

c.2701delA

12 papers

NM_007294.4

p.F901delFs

c.2702_2703delAA

4 papers

NM_007294.4

p.E902D

c.2706A>T

1 paper

NM_007294.4

p.E902E

c.2706A>G