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.G118R

c.352G>A

Surrounding Variants

3 papers

NM_006775.3

p.G118R

c.352G>C

1 paper

NM_006775.3

p.E114*

c.340G>T

1 paper

NM_006775.3

p.Q112P

c.335A>C

1 paper

NM_006775.3

p.R124*

c.370C>T

1 paper

NM_006775.3

p.R124Q

c.371G>A

1 paper

NM_006775.3

p.G127V

c.380G>T

1 paper

NM_006775.3

p.R106T

c.317G>C

2 papers

NM_006775.3

p.R130K

c.389G>A

1 paper

NM_006775.3

p.P105L

c.314C>T

1 paper

NM_006775.3

p.D131fs

c.391_392fs

1 paper

NM_006775.3

p.G104A

c.311G>C

12 papers

NM_006775.3

p.K134delFs

c.401delA