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.F38L

c.112T>C

Surrounding Variants

2 papers

NM_006775.3

p.F38L

c.114C>A

2 papers

NM_006775.3

p.F38L

c.114C>G

2 papers

NM_006775.3

p.N39K

c.117C>A

2 papers

NM_006775.3

p.N39K

c.117C>G

1 paper

NM_006775.3

p.G36E

c.107G>A

1 paper

NM_006775.3

p.C35S

c.104G>C

1 paper

NM_006775.3

p.C35S

c.103T>A

1 paper

NM_006775.3

p.E42D

c.126G>C

1 paper

NM_006775.3

p.E42D

c.126G>T

1 paper

NM_006775.3

p.E48K

c.142G>A

2 papers

NM_006775.3

p.E48A

c.143A>C

9 papers

NM_006775.3

p.E48G

c.143A>G