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.I441V

c.1321A>G

Surrounding Variants

4 papers

NM_007294.4

p.I441L

c.1321A>T

1 paper

NM_007294.4

p.I441fs

c.1321_1322fs

1 paper

NM_007294.4

p.H437_L440del4

c.1309_1319del12

2 papers

NM_007294.4

p.I441insFs

c.1321_1322insA

11 papers

NM_007294.4

p.I441T

c.1322T>C

1 paper

NM_007294.4

p.L440F

c.1320A>T

2 papers

NM_007294.4

p.L440insFs

c.1319dupT

2 papers

NM_007294.4

p.L440fs

c.1318_1319fs

5 papers

NM_007294.4

p.L440delFs

c.1319delA

3 papers

NM_007294.4

p.L440*

c.1319T>G

8 papers

NM_007294.4

p.L440S

c.1319T>C

2 papers

NM_007294.4

p.L440*

c.1319T>A