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.R613fs

c.1837_1838fs

Surrounding Variants

5 papers

NM_007294.4

p.R613G

c.1837A>G

2 papers

NM_007294.4

p.R612insFs

c.1836dupG

1 paper

NM_007294.4

p.R613_K614ins4

c.1837_1841ins12

1 paper

NM_007297.4

p.P559_R565del0

c.1675_1695del21

1 paper

NM_007294.4

p.R613M

c.1838G>T

1 paper

NM_007294.4

p.R612S

c.1836G>T

4 papers

NM_007294.4

p.R612fs

c.1834_1835fs

1 paper

NM_007294.4

p.R613insFs

c.1837dupA

1 paper

NM_007294.4

p.R612S

c.1836G>C

5 papers

NM_007294.4

p.R613K

c.1838G>A

3 papers

NM_007294.4

p.R613delFs

c.1837delT

2 papers

NM_007294.4

p.R613S

c.1839G>T