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

1–12 of 124 variants

12 papers

NM_006775.3

p.K134delFs

c.401delA

11 papers

NM_006775.3

p.K134fs

c.400_401fs

9 papers

NM_006775.3

p.E48G

c.143A>G

5 papers

NM_006775.3

p.K134fs

c.400_401fs

5 papers

NM_006775.3

p.A313V

c.938C>T

4 papers

NM_006775.3

p.V157E

c.470T>A

3 papers

NM_006775.3

p.G118R

c.352G>A

3 papers

NM_006775.3

p.G118R

c.352G>C

3 papers

NM_006775.3

p.K132fs

c.394_395fs

3 papers

NM_006775.3

p.R319Q

c.956G>A

2 papers

NM_006775.3

p.Y17F

c.50A>T

2 papers

NM_006775.3

p.F38L

c.112T>C