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

3 papers

NM_006775.3

p.R319Q

c.956G>A

Surrounding Variants

2 papers

NM_006775.3

p.R319*

c.955C>T

1 paper

NM_006775.3

p.M323T

c.968T>C

1 paper

NM_006775.3

p.R324H

c.971G>A

1 paper

NM_006775.3

p.R324L

c.971G>T

5 papers

NM_006775.3

p.A313V

c.938C>T

1 paper

NM_006775.3

p.Y328F

c.983A>T

1 paper

NM_006775.3

p.R330K

c.989G>A

2 papers

NM_006775.3

p.R330M

c.989G>T

2 papers

NM_006775.3

p.R336Q

c.1007G>A

1 paper

NM_006775.3

p.Y303F

c.908A>T

1 paper

NM_006775.3

p.L301R

c.902T>G

1 paper

NM_006775.3

p.A297T

c.889G>A