Varaico: Literature-Extracted Genetic Variants

Gene:KCNIP3
Variant:p.R39H

KCNIP3

62 papers

RefSeq Summary

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

Pfam Domains

EF-hand_8aa 105–158UCSCEF-hand domain pair
EF-hand_7aa 164–240UCSCEF-hand domain pair

Gene Aliases

HGNC Name

potassium voltage-gated channel interacting protein 3

HGNC Previous Symbol

CSEN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_013434.5
p.R39H
c.116G>A
Surrounding Variants
1 paper
NM_013434.5
p.Q40H
c.120G>T
1 paper
NM_013434.5
p.A41insFs
c.121_122insAC
1 paper
NM_013434.5
p.A41insFs
c.121_122ins4
1 paper
NM_013434.5
p.A41ins2
c.121_122ins6
1 paper
NM_013434.5
p.M43R
c.128T>G
1 paper
NM_013434.5
p.R44_C45insFs
c.132_133ins4
1 paper
NM_013434.5
p.C45S
c.133T>A
1 paper
NM_013434.5
p.C45S
c.134G>C
1 paper
NM_013434.5
p.C46S
c.136T>A
1 paper
NM_013434.5
p.C46S
c.137G>C
1 paper
NM_013434.5
p.K27M
c.80A>T
1 paper
NM_013434.5
p.G20E
c.59G>A
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