Varaico: Literature-Extracted Genetic Variants

Gene:KCNIP2
Variant:p.A60T

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
Selected Variant
1 paper
NM_173191.3
p.A60T
c.178G>A
Surrounding Variants
1 paper
NM_173191.3
p.T57I
c.170C>T
1 paper
NM_173191.3
p.P61_R65delFs
c.182_194del13
1 paper
NM_173191.3
p.D75N
c.223G>A
1 paper
NM_173191.3
p.D78N
c.232G>A
1 paper
NM_173191.3
p.E80Q
c.238G>C
1 paper
NM_173191.3
p.Q99*
c.295C>T
1 paper
NM_173191.3
p.T100N
c.299C>A
1 paper
NM_173191.3
p.V109I
c.325G>A
1 paper
NM_173191.3
p.T57Splc
c.169+58G>T
1 paper
NM_173191.3
p.N116_E117Splc
c.349-12C>T
1 paper
NM_173191.3
p.G121*
c.361G>T
1 paper
NM_173191.3
p.C46S
c.137G>C
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