Varaico: Literature-Extracted Genetic Variants

Gene:KCNRG
Variant:p.R117delFs

KCNRG

35 papers

RefSeq Summary

This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand....

Pfam Domains

BTB_2aa 7–98UCSCBTB/POZ domain

Gene Aliases

HGNC Name

potassium channel regulator

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173605.2
p.R117delFs
c.351delG
Surrounding Variants
1 paper
NM_173605.2
p.N118fs
c.352_353fs
3 papers
NM_173605.2
p.Y101fs
c.301_302fs
2 papers
NM_173605.2
p.P100delFs
c.300delA
1 paper
NM_173605.2
p.T137fs
c.409_410fs
1 paper
NM_173605.2
p.T141delFs
c.422_423delCA
1 paper
NM_173605.2
p.R92H
c.275G>A
1 paper
NM_173605.2
p.L87P
c.260T>C
1 paper
NM_173605.2
p.S148P
c.442T>C
1 paper
NM_173605.2
p.A149V
c.446C>T
1 paper
NM_173605.2
p.L166R
c.497T>G
1 paper
NM_173605.2
p.L62F
c.186A>C
1 paper
NM_173605.2
p.L62F
c.186A>T
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