Varaico: Literature-Extracted Genetic Variants

Gene:TRPM5
Variant:p.M540_G541Splc

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
Selected Variant
1 paper
NM_014555.4
p.M540_G541Splc
c.1620+2T>C
Surrounding Variants
1 paper
NM_014555.4
p.M540L
c.1618A>T
1 paper
NM_014555.4
p.M540L
c.1618A>C
1 paper
NM_014555.4
p.L521M
c.1561C>A
1 paper
NM_014555.4
p.R519Q
c.1556G>A
1 paper
NM_014555.4
p.A548T
c.1642G>A
1 paper
NM_014555.4
p.K553N
c.1659A>T
1 paper
NM_014555.4
p.K553N
c.1659A>C
1 paper
NM_014555.4
p.W506R
c.1516T>C
1 paper
NM_014555.4
p.W506R
c.1516T>A
1 paper
NM_014555.4
p.S559L
c.1676C>T
1 paper
NM_014555.4
p.K495R
c.1484A>G
4 papers
NM_014555.4
p.R578Q
c.1733G>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."