Varaico: Literature-Extracted Genetic Variants

Gene:KCNIP3
Variant:p.Y203N

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
1 paper
NM_013434.5
p.Y203N
c.607T>A
Surrounding Variants
1 paper
NM_013434.5
p.P204A
c.610C>G
1 paper
NM_013434.5
p.M198I
c.594G>A
1 paper
NM_013434.5
p.P211A
c.631C>G
1 paper
NM_013434.5
p.K184*
c.550A>T
3 papers
NM_013434.5
p.D179Y
c.535G>T
3 papers
NM_013434.5
p.A170S
c.508G>T
1 paper
NM_013434.5
p.E234*
c.700G>T
1 paper
NM_013434.5
p.A119V
c.356C>T
1 paper
NM_013434.5
p.N102_E103Splc
c.307-15G>A
1 paper
NM_013434.5
p.K101T
c.302A>C
1 paper
NM_013434.5
p.K90Q
c.268A>C
1 paper
NM_013434.5
p.A84delFs
c.252delC
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