Varaico: Literature-Extracted Genetic Variants

Gene:HPCAL1
Variant:p.S178F

HPCAL1

19 papers

RefSeq Summary

The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to...

Pfam Domains

EF-hand_7aa 39–90UCSCEF-hand domain pair
EF-hand_7aa 98–174UCSCEF-hand domain pair

Gene Aliases

HGNC Name

hippocalcin like 1

HGNC Alias Symbols

BDR1; HLP2; VILIP-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002149.4
p.S178F
c.533C>T
Surrounding Variants
1 paper
NM_002149.4
p.P187L
c.560C>T
1 paper
NM_002149.4
p.Q192H
c.576G>C
1 paper
NM_002149.4
p.Q192H
c.576G>T
1 paper
NM_002149.4
p.D161E
c.483C>A
1 paper
NM_002149.4
p.D161E
c.483C>G
1 paper
NM_002149.4
p.T149A
c.445A>G
1 paper
NM_002149.4
p.K147R
c.440A>G
2 papers
NM_002149.4
p.P139L
c.416C>T
2 papers
NM_002149.4
p.E120K
c.358G>A
1 paper
NM_002149.4
p.E98Q
c.292G>C
1 paper
NM_002149.4
p.D60D
c.180C>T
1 paper
NM_002149.4
p.Y58Y
c.174C>T
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