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

82 papers

NM_007294.4

p.Q1395*

c.4183C>T

NM_007297.4

p.Q1348*

c.4042C>T

Surrounding Variants

1 paper

NM_007294.4

p.Q1395fs

c.4183_4184fs

2 papers

NM_007294.4

p.Q1395E

c.4183C>G

2 papers

NM_007294.4

p.Q1395insFs

c.4183_4184insTC

2 papers

NM_007294.4

p.T1394fs

c.4180_4181fs

2 papers

NM_007294.4

p.Q1395L

c.4184A>T

18 papers

NM_007294.4

p.Q1395R

c.4184A>G

5 papers

NM_007294.4

p.T1394_Q1395insFs

c.4182_4183dupTC

2 papers

NM_007294.4

p.T1394_Q1395delFs

c.4182_4183delGA

11 papers

NM_007294.4

p.Q1395H

c.4185G>T

5 papers

NM_007294.4

p.Q1395fs

c.4183_4184fs

14 papers

NM_007294.4

p.Q1395H

c.4185G>C

38 papers

NM_007294.4

p.Q1395Q

c.4185G>A