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

189 papers

NM_007294.4

p.M1652I

c.4956G>T

NM_007300.4

p.M1673I

c.5019G>T

Surrounding Variants

189 papers

NM_007294.4

p.M1652I

c.4956G>C

NM_007300.4

p.M1673I

c.5019G>C

206 papers

NM_007294.4

p.M1652I

c.4956G>A

NM_007300.4

p.M1673I

c.5019G>A

3 papers

NM_007294.4

p.M1652delins

c.4955_4956delinsAA

6 papers

NM_007294.4

p.M1652R

c.4955T>G

44 papers

NM_007294.4

p.M1652T

c.4955T>C

17 papers

NM_007294.4

p.M1652K

c.4955T>A

14 papers

NM_007294.4

p.V1653L

c.4957G>T

NM_007300.4

p.V1674L

c.5020G>T

4 papers

NM_007294.4

p.V1653insFs

c.4957_4958insC

13 papers

NM_007294.4

p.V1653L

c.4957G>C

25 papers

NM_007294.4

p.V1653M

c.4957G>A

3 papers

NM_007294.4

p.M1652_V1653insFs

c.4956_4957insG

8 papers

NM_007294.4

p.V1653G

c.4958T>G