Varaico: Literature-Extracted Genetic Variants

Gene:KCNIP1
Variant:p.D25Y

KCNIP1

27 papers

RefSeq Summary

This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium bindin...

Pfam Domains

EF-hand_8aa 76–129UCSCEF-hand domain pair
EF-hand_7aa 135–211UCSCEF-hand domain pair

Gene Aliases

HGNC Name

potassium voltage-gated channel interacting protein 1

HGNC Alias Symbol

KCHIP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014592.4
p.D25Y
c.73G>T
Surrounding Variants
1 paper
NM_014592.4
p.E37K
c.109G>A
1 paper
NM_014592.4
p.D86Splc
c.257-5T>C
1 paper
NM_014592.4
p.H92Y
c.274C>T
1 paper
NM_014592.4
p.H92P
c.275A>C
2 papers
NM_001034837.3
p.F106L
c.318C>A
1 paper
NM_014592.4
p.D99A
c.296A>C
1 paper
NM_014592.4
p.L127I
c.379C>A
1 paper
NM_014592.4
p.D135N
c.403G>A
1 paper
NM_014592.4
p.D135A
c.404A>C
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