Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1
Variant:p.K112delFs

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.K112delFs
c.336delT
Surrounding Variants
1 paper
NM_001252024.2
p.K112Q
c.334A>C
1 paper
NM_001252024.2
p.L106_V111del6
c.316_332del18
1 paper
NM_002420.6
p.M88K
c.263T>A
1 paper
NM_002420.6
p.L94insFs
c.281dupT
1 paper
NM_001252024.2
p.L106P
c.317T>C
2 papers
NM_002420.6
p.D82_L84delins
c.245_250delinsGTGAAAGAT
7 papers
NM_002420.6
p.L99P
c.296T>C
NM_001252024.2
p.L121P
c.362T>C
NM_001252020.2
p.L138P
c.413T>C
1 paper
NM_002420.6
p.L99H
c.296T>A
1 paper
NM_002420.6
p.D82insFs
c.245dupA
1 paper
NM_002420.6
p.L100*
c.299T>G
1 paper
NM_002420.6
p.L100S
c.299T>C
1 paper
NM_002420.6
p.P81_D82insA
c.241_245ins3
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