Varaico: Literature-Extracted Genetic Variants

Gene:KCNIP2

KCNIP2

33 papers

RefSeq Summary

This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP f...

Pfam Domains

EF-hand_8aa 119–171UCSCEF-hand domain pair
EF-hand_7aa 178–254UCSCEF-hand domain pair

Gene Aliases

HGNC Name

potassium voltage-gated channel interacting protein 2

HGNC Alias Symbol

KCHIP2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
1 paper
NM_173191.3
p.R6C
c.16C>T
1 paper
NM_173191.3
p.R6fs
c.16_17fs
1 paper
NM_173191.3
p.D15E
c.45C>A
1 paper
NM_173191.3
p.L16M
c.46C>A
1 paper
NM_173191.3
p.G25Splc
c.73+91C>A
1 paper
NM_173191.3
p.C45S
c.133T>A
1 paper
NM_173191.3
p.C45S
c.134G>C
1 paper
NM_173191.3
p.C46S
c.136T>A
1 paper
NM_173191.3
p.C46S
c.137G>C
1 paper
NM_173191.3
p.T57Splc
c.169+58G>T
1 paper
NM_173191.3
p.T57I
c.170C>T
1 paper
NM_173191.3
p.A60T
c.178G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."