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.R1397fs

c.4189_4190fs

Surrounding Variants

1 paper

NM_007294.4

p.R1397S

c.4191G>T

1 paper

NM_007294.4

p.Q1396_R1397delFs

c.4187_4190del4

2 papers

NM_007294.4

p.D1398fs

c.4192_4193fs

3 papers

NM_007294.4

p.D1398Y

c.4192G>T

1 paper

NM_007294.4

p.R1397M

c.4190G>T

1 paper

NM_007294.4

p.R1397insFs

c.4190_4191ins23

1 paper

NM_007294.4

p.R1397T

c.4190G>C

3 papers

NM_007294.4

p.D1398N

c.4192G>A

2 papers

NM_007294.4

p.R1397K

c.4190G>A

1 paper

NM_007294.4

p.R1397fs

c.4189_4190fs

5 papers

NM_007294.4

p.D1398V

c.4193A>T

1 paper

NM_007294.4

p.R1397W

c.4189A>T