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

6 papers

NM_007294.4

p.V1687I

c.5059G>A

Surrounding Variants

2 papers

NM_007294.4

p.V1687fs

c.5059_5060fs

6 papers

NM_007294.4

p.V1687F

c.5059G>T

1 paper

NM_007294.4

p.V1687insFs

c.5059_5060ins4

6 papers

NM_007294.4

p.V1687L

c.5059G>C

1 paper

NM_007294.4

p.H1686_V1687insFs

c.5058_5059ins4

2 papers

NM_007294.4

p.H1686insFs

c.5057dupA

19 papers

NM_007294.4

p.H1686Q

c.5058T>G

10 papers

NM_007294.4

p.V1687G

c.5060T>G

7 papers

NM_007294.4

p.V1687A

c.5060T>C

19 papers

NM_007294.4

p.H1686Q

c.5058T>A

7 papers

NM_007294.4

p.V1687D

c.5060T>A

4 papers

NM_007294.4

p.V1687delFs

c.5059delC