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

3 papers

NM_007294.4

p.Q867R

c.2600A>G

Surrounding Variants

2 papers

NM_007294.4

p.Q867P

c.2600A>C

1 paper

NM_007294.4

p.Q867fs

c.2599_2600fs

13 papers

NM_007294.4

p.Q867*

c.2599C>T

2 papers

NM_007294.4

p.Q867E

c.2599C>G

3 papers

NM_007294.4

p.K865_R866del2

c.2593_2597del6

1 paper

NM_007294.4

p.S868P

c.2602T>C

1 paper

NM_007294.4

p.R866R

c.2598C>A

1 paper

NM_007294.4

p.K865_R866delFs

c.2594_2597del4

1 paper

NM_007294.4

p.S868fs

c.2602_2603fs

3 papers

NM_007294.4

p.R866L

c.2597G>T

21 papers

NM_007294.4

p.R866H

c.2597G>A

1 paper

NM_007294.4

p.Q855_K865del11

c.2563_2594del33