Varaico: Literature-Extracted Genetic Variants

Gene:NCALD
Variant:p.K130R

NCALD

27 papers

RefSeq Summary

This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The...

Pfam Domains

EF-hand_1aa 64–92UCSCEF hand domain
EF-hand_7aa 98–174UCSCEF-hand domain pair

Gene Aliases

HGNC Name

neurocalcin delta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032041.3
p.K130R
c.389A>G
Surrounding Variants
1 paper
NM_032041.3
p.I128F
c.382A>T
1 paper
NM_032041.3
p.K147N
c.441A>C
1 paper
NM_032041.3
p.L166M
c.496C>A
1 paper
NM_032041.3
p.E167K
c.499G>A
1 paper
NM_032041.3
p.D176Y
c.526G>T
1 paper
NM_032041.3
p.P177Q
c.530C>A
1 paper
NM_032041.3
p.R181C
c.541C>T
1 paper
NM_032041.3
p.C185R
c.553T>C
1 paper
NM_032041.3
p.P187L
c.560C>T
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