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

1 paper

NM_007294.4

p.S104insFs

c.310dupA

Surrounding Variants

1 paper

NM_007294.4

p.S104I

c.311G>T

1 paper

NM_007294.4

p.S104T

c.311G>C

2 papers

NM_007294.4

p.S104N

c.311G>A

1 paper

NM_007294.4

p.S104delFs

c.310delT

1 paper

NM_007294.4

p.S104S

c.312C>T

3 papers

NM_007294.4

p.S104R

c.312C>G

3 papers

NM_007294.4

p.S104R

c.312C>A

1 paper

NM_007294.4

p.S104Fs

c.311_312delinsAGGFs

3 papers

NM_007294.4

p.S104Fs

c.311_312delinsAGGTTTGCAFs

2 papers

NM_007294.4

p.S104fs

c.310_311fs

3 papers

NM_007294.4

p.Y101_S104delFs

c.302_311del10

5 papers

NM_007294.4

p.S104G

c.310A>G