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

55 papers

NM_007294.4

p.W372*

c.1115G>A

Surrounding Variants

1 paper

NM_007294.4

p.W372L

c.1115G>T

1 paper

NM_007294.4

p.P371_W372insFs

c.1111_1114dup4

1 paper

NM_007294.4

p.W372insFs

c.1114_1115insA

3 papers

NM_007294.4

p.W372R

c.1114T>C

3 papers

NM_007294.4

p.W372R

c.1114T>A

1 paper

NM_007294.4

p.W372C

c.1116G>T

1 paper

NM_007294.4

p.W372C

c.1116G>C

53 papers

NM_007294.4

p.W372*

c.1116G>A

1 paper

NM_007294.4

p.W372fs

c.1114_1115fs

1 paper

NM_007294.4

p.P371insFs

c.1112dupC

2 papers

NM_007294.4

p.P371fs

c.1111_1112fs

1 paper

NM_007294.4

p.P371P

c.1113T>G