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

19 papers

NM_007294.4

p.E23G

c.68A>G

Surrounding Variants

14 papers

NM_007294.4

p.E23V

c.68A>T

8 papers

NM_007294.4

p.E23A

c.68A>C

1 paper

NM_007294.4

p.E23insFs

c.67dupG

4 papers

NM_007294.4

p.E23delins

c.67_68delinsAG

3 papers

NM_007294.4

p.E23delFs

c.67delC

1 paper

NM_007294.4

p.L22_E23delFs

c.64_67del4

2 papers

NM_007294.4

p.N13_E23delFs

c.39_67del29

7 papers

NM_007294.4

p.E23D

c.69G>T

5 papers

NM_007294.4

p.E23*

c.67G>T

1 paper

NM_007294.4

p.E23_C24ins1

c.69_70insATT

5 papers

NM_007294.4

p.E23_C24insFs

c.69_70insAG

1 paper

NM_007294.4

p.E23_C24insFs

c.69_70insC