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.S1239S

c.3717T>A

Surrounding Variants

4 papers

NM_007294.4

p.S1239fs

c.3715_3716fs

3 papers

NM_007294.4

p.S1239Fs

c.3715_3717delinsCFs

1 paper

NM_007294.4

p.P1238_S1239delFs

c.3712_3716del5

1 paper

NM_007294.4

p.Q1240fs

c.3718_3719fs

37 papers

NM_007294.4

p.Q1240*

c.3718C>T

1 paper

NM_007294.4

p.S1239F

c.3716C>T

2 papers

NM_007294.4

p.Q1240E

c.3718C>G

1 paper

NM_007294.4

p.S1239Y

c.3716C>A

9 papers

NM_007294.4

p.S1239delFs

c.3715delA

2 papers

NM_007294.4

p.S1239delFs

c.3717delA

1 paper

NM_007294.4

p.I1237_S1239delFs

c.3711_3715del5

1 paper

NM_007294.4

p.S1239P

c.3715T>C