Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.D150N

TRPM1

227 papers

RefSeq Summary

This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expr...

Pfam Domains

LSDAT_eukaa 70–335UCSCSLOG in TRPM
TRPM2aa 454–726UCSCTRPM2-like domain
Ion_transaa 823–1087UCSCIon transport protein
TRPM_tetraaa 1179–1234UCSCTetramerisation domain of TRPM

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 1

HGNC Previous Symbol

MLSN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002420.6
p.D150N
c.448G>A
Surrounding Variants
1 paper
NM_002420.6
p.D150H
c.448G>C
1 paper
NM_001252024.2
p.G171R
c.511G>C
1 paper
NM_001252024.2
p.G171R
c.511G>A
1 paper
NM_002420.6
p.A151V
c.452C>T
1 paper
NM_001252020.2
p.V187L
c.559G>C
1 paper
NM_001252024.2
p.K175delFs
c.525delT
1 paper
NM_001252020.2
p.D193delFs
c.577delC
1 paper
NM_002420.6
p.G149_H155ins2
c.445_465dup21
1 paper
NM_001252024.2
p.S178delFs
c.533delG
1 paper
NM_002420.6
p.G143Splc
c.428-1G>C
5 papers
NM_002420.6
p.S157F
c.470C>T
NM_001252024.2
p.S179F
c.536C>T
3 papers
NM_002420.6
p.G143Splc
c.428-3C>G
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