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.N1678fs

c.5032_5033fs

Surrounding Variants

5 papers

NM_007294.4

p.N1678Y

c.5032A>T

5 papers

NM_007294.4

p.N1678D

c.5032A>G

5 papers

NM_007294.4

p.N1678H

c.5032A>C

1 paper

NM_007294.4

p.L1676_T1677delFs

c.5027_5031del5

1 paper

NM_007294.4

p.H1673_T1677del5

c.5017_5030del15

28 papers

NM_007294.4

p.T1677fs

c.5029_5030fs

1 paper

NM_007294.4

p.T1677T

c.5031T>A

2 papers

NM_007294.4

p.T1677delFs

c.5030delG

5 papers

NM_007294.4

p.N1678I

c.5033A>T

6 papers

NM_007294.4

p.N1678S

c.5033A>G

5 papers

NM_007294.4

p.N1678T

c.5033A>C

1 paper

NM_007294.4

p.N1678insFs

c.5033_5034ins4