Varaico: Literature-Extracted Genetic Variants

Gene:EPDR1
Variant:p.V36L

EPDR1

34 papers

RefSeq Summary

The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calci...

Pfam Domains

Ependyminaa 86–210UCSCEpendymin

Gene Aliases

HGNC Name

ependymin related 1

HGNC Alias Symbols

MERP-1; MERP1; UCC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017549.5
p.V36L
c.106G>C
Surrounding Variants
1 paper
NM_017549.5
p.A35fs
c.103_104fs
1 paper
NM_017549.5
p.G34E
c.101G>A
1 paper
NM_017549.5
p.P39S
c.115C>T
1 paper
NM_017549.5
p.S32G
c.94A>G
1 paper
NM_017549.5
p.C28_S32delFs
c.82_94del13
1 paper
NM_017549.5
p.C28_S32del5
c.82_95del15
1 paper
NM_017549.5
p.T26T
c.78C>G
1 paper
NM_017549.5
p.Q46*
c.136C>T
1 paper
NM_017549.5
p.R51H
c.152G>A
1 paper
NM_017549.5
p.G20A
c.59G>C
1 paper
NM_017549.5
p.R61H
c.182G>A
1 paper
NM_017549.5
p.T9S
c.25A>T
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