Varaico: Literature-Extracted Genetic Variants

Gene:TRPM5

TRPM5

120 papers

RefSeq Summary

This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an import...

Pfam Domains

LSDAT_eukaa 38–290UCSCSLOG in TRPM
TRPM2aa 367–626UCSCTRPM2-like domain
Ion_transaa 737–990UCSCIon transport protein

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 5

HGNC Alias Symbols

LTRPC5; MTR1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
6 papers
NM_014555.4
p.N235S
c.704A>G
4 papers
NM_014555.4
p.R578Q
c.1733G>A
3 papers
NM_014555.4
p.V254A
c.761T>C
2 papers
NM_014555.4
p.P49L
c.146C>T
2 papers
NM_014555.4
p.A456T
c.1366G>A
2 papers
NM_014555.4
p.L581L
c.1743T>C
2 papers
NM_014555.4
p.E592K
c.1774G>A
2 papers
NM_014555.4
p.V752I
c.2254G>A
2 papers
NM_014555.4
p.V882M
c.2644G>A
2 papers
NM_014555.4
p.G900S
c.2698G>A
2 papers
NM_014555.4
p.S979Splc
c.2936+1G>A
2 papers
NM_014555.4
p.E1033K
c.3097G>A
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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."