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

11 papers

NM_007294.4

p.I441T

c.1322T>C

Surrounding Variants

2 papers

NM_007294.4

p.I441insFs

c.1321_1322insA

4 papers

NM_007294.4

p.I441L

c.1321A>T

4 papers

NM_007294.4

p.I441M

c.1323A>G

1 paper

NM_007294.4

p.I441V

c.1321A>G

1 paper

NM_007294.4

p.I441fs

c.1321_1322fs

1 paper

NM_007294.4

p.L440_I441delFs

c.1318_1321del4

1 paper

NM_007294.4

p.H437_L440del4

c.1309_1319del12

1 paper

NM_007294.4

p.C442G

c.1324T>G

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.L440F

c.1320A>T