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.N969K

c.2907T>A

Surrounding Variants

3 papers

NM_007294.4

p.N969fs

c.2905_2906fs

3 papers

NM_007294.4

p.N969K

c.2907T>G

1 paper

NM_007294.4

p.N969N

c.2907T>C

5 papers

NM_007294.4

p.N969delFs

c.2906delT

2 papers

NM_007294.4

p.N969S

c.2906A>G

1 paper

NM_007294.4

p.K970fs

c.2908_2909fs

1 paper

NM_007294.4

p.N969fs

c.2905_2906fs

3 papers

NM_007294.4

p.K970I

c.2909A>T

4 papers

NM_007294.4

p.N969D

c.2905A>G

1 paper

NM_007294.4

p.K970R

c.2909A>G

3 papers

NM_007294.4

p.N969_K970insC

c.2905_2909ins3

1 paper

NM_007294.4

p.L965_P968del4

c.2893_2903del12