Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.E82_Q84delins

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.E82_Q84delins
c.245_250delinsGTGAAAGAT
Surrounding Variants
1 paper
NM_002420.6
p.G63C
c.187G>T
1 paper
NM_001252024.2
p.G87G
c.261A>C
1 paper
NM_002420.6
p.V58L
c.172G>C
2 papers
NM_002420.6
p.Y56C
c.167A>G
NM_001252020.2
p.Y95C
c.284A>G
1 paper
NM_001252024.2
p.N90delFs
c.270delA
1 paper
NM_001252020.2
p.A109P
c.325G>C
1 paper
NM_002420.6
p.P52S
c.154C>T
1 paper
NM_002420.6
p.S50del1
c.148_149delGCT
2 papers
NM_002420.6
p.S50T
c.149G>C
1 paper
NM_002420.6
p.S43delFs
c.129delA
1 paper
NM_001252024.2
p.W64S
c.191G>C
1 paper
NM_002420.6
p.E40K
c.118G>A
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