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

2 papers

NM_007294.4

p.S1049S

c.3147C>T

Surrounding Variants

1 paper

NM_007294.4

p.S1049S

c.3147C>G

1 paper

NM_007294.4

p.S1049fs

c.3145_3146fs

2 papers

NM_007294.4

p.S1049F

c.3146C>T

5 papers

NM_007294.4

p.G1048delFs

c.3144delA

1 paper

NM_007294.4

p.G1048_S1049delFs

c.3144_3145delAA

1 paper

NM_007294.4

p.S1050C

c.3148A>T

2 papers

NM_007294.4

p.S1050G

c.3148A>G

5 papers

NM_007294.4

p.S1050R

c.3148A>C

1 paper

NM_007297.4

p.S1002delFs

c.3005delG

1 paper

NM_007294.4

p.S1050I

c.3149G>T

5 papers

NM_007294.4

p.S1050T

c.3149G>C

4 papers

NM_007294.4

p.S1050N

c.3149G>A