Varaico: Literature-Extracted Genetic Variants

Gene:ICMT
Variant:p.L102S

ICMT

47 papers

RefSeq Summary

This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme ...

Pfam Domains

ICMTaa 163–257UCSCIsoprenylcysteine carboxyl methyltransferase (ICMT) family

Gene Aliases

HGNC Name

isoprenylcysteine carboxyl methyltransferase

HGNC Alias Symbols

PCCMT; HSTE14; PPMT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012405.4
p.L102S
c.305T>C
Surrounding Variants
1 paper
NM_012405.4
p.Y105F
c.314A>T
2 papers
NM_012405.4
p.N114S
c.341A>G
1 paper
NM_012405.4
p.K117N
c.351A>T
1 paper
NM_012405.4
p.K117N
c.351A>C
1 paper
NM_012405.4
p.I148I
c.444C>A
1 paper
NM_012405.4
p.H92insFs
c.275dupA
1 paper
NM_012405.4
p.S91R
c.273T>G
1 paper
NM_012405.4
p.S91R
c.273T>A
1 paper
NM_012405.4
p.S91R
c.271A>C
1 paper
NM_012405.4
p.S89P
c.265T>C
1 paper
NM_012405.4
p.S88F
c.263C>T
1 paper
NM_012405.4
p.S84delFs
c.252delA
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