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

11 papers

NM_007294.4

p.Q54K

c.160C>A

Surrounding Variants

21 papers

NM_007294.4

p.Q54*

c.160C>T

8 papers

NM_007294.4

p.Q54E

c.160C>G

5 papers

NM_007294.4

p.N53N

c.159C>T

6 papers

NM_007294.4

p.N53K

c.159C>G

1 paper

NM_007294.4

p.N53insFs

c.157dupA

5 papers

NM_007294.4

p.N53K

c.159C>A

4 papers

NM_007294.4

p.N53delFs

c.157delT

1 paper

NM_007294.4

p.N53delFs

c.157_158delTT

7 papers

NM_007294.4

p.Q54L

c.161A>T

12 papers

NM_007294.4

p.Q54R

c.161A>G

9 papers

NM_007294.4

p.Q54P

c.161A>C

1 paper

NM_007294.4

p.Q54delFs

c.160delG