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.L440_I441delFs

c.1318_1321del4

Surrounding Variants

4 papers

NM_007294.4

p.I441M

c.1323A>G

2 papers

NM_007294.4

p.I441insFs

c.1321_1322insA

1 paper

NM_007294.4

p.C442G

c.1324T>G

11 papers

NM_007294.4

p.I441T

c.1322T>C

4 papers

NM_007294.4

p.C442R

c.1324T>C

1 paper

NM_007294.4

p.I441delFs

c.1323delT

1 paper

NM_007294.4

p.L432_I441del10

c.1294_1322del30

1 paper

NM_007294.4

p.C442insFs

c.1325_1326insT

3 papers

NM_007294.4

p.C442Y

c.1325G>A

3 papers

NM_007294.4

p.I441_C442delFs

c.1323_1324delAT

2 papers

NM_007294.4

p.I441_C442delFs

c.1321_1324del4

1 paper

NM_007294.4

p.L440_I441del2

c.1318_1322del6