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

2 papers

NM_006775.3

p.Y17F

c.50A>T

Surrounding Variants

1 paper

NM_006775.3

p.L18M

c.52C>A

1 paper

NM_006775.3

p.D16E

c.48T>A

1 paper

NM_006775.3

p.L18P

c.53T>C

1 paper

NM_006775.3

p.D16N

c.46G>A

1 paper

NM_006775.3

p.D24H

c.70G>C

1 paper

NM_006775.3

p.E9K

c.25G>A

1 paper

NM_006775.3

p.T7M

c.20C>T

1 paper

NM_006775.3

p.M1insFs

c.2dupT

1 paper

NM_006775.3

p.C35S

c.103T>A

1 paper

NM_006775.3

p.C35S

c.104G>C

1 paper

NM_006775.3

p.G36E

c.107G>A

2 papers

NM_006775.3

p.F38L

c.112T>C