Varaico: Literature-Extracted Genetic Variants

Gene:EPDR1
Variant:p.C210delFs

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.C210delFs
c.630delC
Surrounding Variants
2 papers
NM_017549.5
p.T209M
c.626C>T
1 paper
NM_017549.5
p.Y160Splc
c.478+445C>T
2 papers
NM_017549.5
p.T147A
c.439A>G
1 paper
NM_017549.5
p.Q145K
c.433C>A
1 paper
NM_017549.5
p.T119A
c.355A>G
1 paper
NM_017549.5
p.K111R
c.332A>G
1 paper
NM_017549.5
p.Y98C
c.293A>G
1 paper
NM_017549.5
p.E93V
c.278A>T
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