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.S1286_T1289delFs

c.3858_3867del10

Surrounding Variants

7 papers

NM_007294.4

p.K1290*

c.3868A>T

9 papers

NM_007294.4

p.K1290E

c.3868A>G

12 papers

NM_007294.4

p.K1290fs

c.3868_3869fs

1 paper

NM_007294.4

p.K1290I

c.3869A>T

3 papers

NM_007294.4

p.K1290T

c.3869A>C

1 paper

NM_007294.4

p.T1289K

c.3866C>A

2 papers

NM_007294.4

p.T1289delFs

c.3865delT

1 paper

NM_007294.4

p.E1288_T1289delFs

c.3862_3865del4

1 paper

NM_007294.4

p.K1290_C1291insFs

c.3870_3871insT

1 paper

NM_007294.4

p.K1290_C1291insFs

c.3870_3871insC

2 papers

NM_007294.4

p.K1290fs

c.3868_3869fs

1 paper

NM_007294.4

p.C1291insFs

c.3871_3872insC