Varaico: Literature-Extracted Genetic Variants

Gene:EMP1
Variant:p.H12R

EMP1

70 papers

Pfam Domains

PMP22_Claudinaa 1–151UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

epithelial membrane protein 1

HGNC Alias Symbols

TMP; CL-20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001423.3
p.H12R
c.35A>G
Surrounding Variants
3 papers
NM_001423.3
p.V11G
c.32T>G
1 paper
NM_001423.3
p.T15S
c.43A>T
1 paper
NM_001423.3
p.T15S
c.44C>G
1 paper
NM_001423.3
p.A6A
c.18T>A
1 paper
NM_001423.3
p.A6A
c.18T>C
1 paper
NM_001423.3
p.L19L
c.55C>T
1 paper
NM_001423.3
p.L4*
c.11T>A
1 paper
NM_001423.3
p.S22C
c.64A>T
1 paper
NM_001423.3
p.S31T
c.91T>A
1 paper
NM_001423.3
p.S31F
c.92C>T
1 paper
NM_001423.3
p.V38L
c.112G>C
1 paper
NM_001423.3
p.V38L
c.112G>T
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