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.K307_S308insFs

c.921_922insT

Surrounding Variants

2 papers

NM_007294.4

p.K307fs

c.919_920fs

13 papers

NM_007294.4

p.S308fs

c.922_923fs

7 papers

NM_007294.4

p.S308C

c.922A>T

3 papers

NM_007294.4

p.S308G

c.922A>G

2 papers

NM_007294.4

p.K307R

c.920A>G

2 papers

NM_007294.4

p.S308_K309insA

c.922_926ins3

3 papers

NM_007294.4

p.N306delFs

c.917_918delAT

1 paper

NM_007294.4

p.N306_K307delFs

c.917_920del4

1 paper

NM_007294.4

p.S308I

c.923G>T

2 papers

NM_007294.4

p.S308insFs

c.922dupA

9 papers

NM_007294.4

p.S308T

c.923G>C

5 papers

NM_007294.4

p.S308N

c.923G>A