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

1 paper

NM_006775.3

p.A297T

c.889G>A

Surrounding Variants

1 paper

NM_006775.3

p.L301R

c.902T>G

1 paper

NM_006775.3

p.Y303F

c.908A>T

1 paper

NM_006775.3

p.Y290N

c.868T>A

1 paper

NM_006775.3

p.I284I

c.852C>T

1 paper

NM_006775.3

p.E280K

c.838G>A

1 paper

NM_006775.3

p.G278R

c.832G>A

1 paper

NM_006775.3

p.G278R

c.832G>C

1 paper

NM_006775.3

p.I274V

c.820A>G

1 paper

NM_006775.3

p.R256_Q257insFs

c.768_769insAG

1 paper

NM_006775.3

p.L254L

c.760T>C

1 paper

NM_006775.3

p.G248R

c.742G>C

1 paper

NM_006775.3

p.T245A

c.733A>G