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.S335R

c.1005C>A

Surrounding Variants

1 paper

NM_007294.4

p.S335insFs

c.1004_1005ins5

3 papers

NM_007294.4

p.S335N

c.1004G>A

1 paper

NM_007294.4

p.S335delFs

c.1003delT

1 paper

NM_007294.4

p.T336A

c.1006A>G

2 papers

NM_007294.4

p.T336P

c.1006A>C

1 paper

NM_007294.4

p.T336fs

c.1006_1007fs

2 papers

NM_007294.4

p.T336I

c.1007C>T

1 paper

NM_007294.4

p.T336R

c.1007C>G

1 paper

NM_007294.4

p.T336insFs

c.1007_1008insA

1 paper

NM_007294.4

p.S335fs

c.1003_1004fs

1 paper

NM_007294.4

p.S335C

c.1003A>T

4 papers

NM_007294.4

p.S335G

c.1003A>G