Varaico: Literature-Extracted Genetic Variants

Gene:EMP3
Variant:p.M1I

EMP3

25 papers

RefSeq Summary

The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved i...

Pfam Domains

PMP22_Claudinaa 1–156UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

epithelial membrane protein 3

HGNC Alias Symbol

YMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001425.3
p.M1I
c.3G>C
Surrounding Variants
1 paper
NM_001425.3
p.M1V
c.1A>G
1 paper
NM_001425.3
p.L6_V7delFs
c.17_21del5
1 paper
NM_001425.3
p.S9L
c.26C>T
1 paper
NM_001425.3
p.I15_L16delFs
c.44_48del5
1 paper
NM_001425.3
p.L24S
c.71T>C
1 paper
NM_001425.3
p.K26_S27Splc
c.78+1G>A
1 paper
NM_001425.3
p.K26_S27Splc
c.78+1G>C
1 paper
NM_001425.3
p.W29delFs
c.85_86delTG
1 paper
NM_001425.3
p.L31delFs
c.92_93delTC
1 paper
NM_001425.3
p.Y41*
c.123C>A
1 paper
NM_001425.3
p.Y41*
c.123C>G
1 paper
NM_001425.3
p.T44_D48del5
c.130_143del15
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