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

4 papers

NM_007294.4

p.E1053D

c.3159A>T

Surrounding Variants

1 paper

NM_007294.4

p.E1053E

c.3159A>G

5 papers

NM_007294.4

p.E1053D

c.3159A>C

1 paper

NM_007294.4

p.N1052_E1053del1

c.3155_3157delCAT

1 paper

NM_007294.4

p.V1054_G1055insT

c.3160_3164ins3

5 papers

NM_007294.4

p.V1054M

c.3160G>A

3 papers

NM_007294.4

p.V1054fs

c.3160_3161fs

1 paper

NM_007294.4

p.E1053delFs

c.3159delT

11 papers

NM_007294.4

p.E1053insFs

c.3157dupG

7 papers

NM_007294.4

p.E1053delFs

c.3157delC

2 papers

NM_007294.4

p.V1054A

c.3161T>C

1 paper

NM_007294.4

p.V1054delFs

c.3160delC

4 papers

NM_007294.4

p.E1053*

c.3157G>T