Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.R182_R184delFs

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_001252024.2
p.R182_R184delFs
c.545_552del8
Surrounding Variants
1 paper
NM_002420.6
p.R162P
c.485G>C
1 paper
NM_001252020.2
p.R201Q
c.602G>A
1 paper
NM_002420.6
p.G167R
c.499G>C
1 paper
NM_002420.6
p.G167R
c.499G>A
1 paper
NM_002420.6
p.G167E
c.500G>A
1 paper
NM_002420.6
p.R160_G167delFs
c.479_501del23
5 papers
NM_002420.6
p.S157F
c.470C>T
NM_001252024.2
p.S179F
c.536C>T
1 paper
NM_001252024.2
p.A191A
c.573T>G
1 paper
NM_001252024.2
p.A191A
c.573T>C
1 paper
NM_001252024.2
p.S178delFs
c.533delG
1 paper
NM_002420.6
p.G149_H155ins2
c.445_465dup21
1 paper
NM_001252020.2
p.D193delFs
c.577delC
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