Varaico: Literature-Extracted Genetic Variants

Gene:KCNIP4
Variant:p.L13L

KCNIP4

45 papers

RefSeq Summary

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

Pfam Domains

EF-hand_8aa 82–133UCSCEF-hand domain pair
EF-hand_7aa 141–217UCSCEF-hand domain pair

Gene Aliases

HGNC Name

potassium voltage-gated channel interacting protein 4

HGNC Alias Symbols

CALP; KCHIP4; MGC44947

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025221.6
p.L13L
c.39G>A
Surrounding Variants
1 paper
NM_025221.6
p.Q12H
c.36G>C
1 paper
NM_025221.6
p.E15Q
c.43G>C
1 paper
NM_025221.6
p.Q12_L13insTT
c.34_38ins6
1 paper
NM_025221.6
p.A16T
c.46G>A
1 paper
NM_025221.6
p.A11_Q12ins10
c.31_35ins30
1 paper
NM_025221.6
p.A16D
c.47C>A
1 paper
NM_025221.6
p.R4_R5insFs
c.12_13insTT
1 paper
NM_025221.6
p.R4Fs
c.12delinsAAFs
1 paper
NM_025221.6
p.R4insFs
c.11_12ins10
1 paper
NM_025221.6
p.M1I
c.3G>T
1 paper
NM_025221.6
p.M1I
c.3G>C
1 paper
NM_025221.6
p.M1I
c.3G>A
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