Varaico: Literature-Extracted Genetic Variants

QKI

156 papers

RefSeq Summary

The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved ...

Pfam Domains

STAR_dimeraa 10–66UCSCHomodimerisation region of STAR domain protein

KH-I_KHDC4-BBPaa 92–180UCSCKHDC4/BBP-like, KH-domain type I

Quaking_NLSaa 312–341UCSCPutative nuclear localisation signal of quaking

Gene Aliases

HGNC Name

QKI, KH domain containing RNA binding

HGNC Alias Symbol

QK3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006775.3

p.E174K

c.520G>A

Surrounding Variants

1 paper

NM_006775.3

p.E174del1

c.520_521delGAA

1 paper

NM_006775.3

p.P181R

c.542C>G

4 papers

NM_006775.3

p.V157E

c.470T>A

1 paper

NM_006775.3

p.V157M

c.469G>A

1 paper

NM_006775.3

p.L151V

c.451T>G

1 paper

NM_006775.3

p.N148H

c.442A>C

1 paper

NM_006775.3

p.E135fs

c.403_404fs