Varaico: Literature-Extracted Genetic Variants

Gene:TRPM1

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
1–12 of 508 variants
4 papers
NM_001252024.2
p.M1I
c.3G>A
4 papers
NM_002420.6
p.R74C
c.220C>T
4 papers
NM_001252024.2
p.S98F
c.293C>T
4 papers
NM_002420.6
p.L99P
c.296T>C
4 papers
NM_001252024.2
p.L138P
c.413T>C
3 papers
NM_001252024.2
p.M1T
c.2T>C
3 papers
NM_001252024.2
p.M1I
c.3G>T
3 papers
NM_001252024.2
p.M1I
c.3G>C
3 papers
NM_002420.6
p.Q11*
c.31C>T
3 papers
NM_001252024.2
p.Y94C
c.281A>G
3 papers
NM_002420.6
p.Y72C
c.215A>G
3 papers
NM_002420.6
p.G143Splc
c.428-3C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."