Varaico: Literature-Extracted Genetic Variants

Gene:TRPM5
Variant:p.R18W

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.R18W
c.52C>T
Surrounding Variants
1 paper
NM_014555.4
p.G26S
c.76G>A
1 paper
NM_014555.4
p.G26G
c.78C>A
1 paper
NM_014555.4
p.Q5*
c.13C>T
1 paper
NM_014555.4
p.G32V
c.95G>T
1 paper
NM_014555.4
p.M1K
c.2T>A
1 paper
NM_014555.4
p.K36T
c.107A>C
2 papers
NM_014555.4
p.P49L
c.146C>T
1 paper
NM_014555.4
p.S82A
c.244T>G
1 paper
NM_014555.4
p.D86A
c.257A>C
1 paper
NM_014555.4
p.V93M
c.277G>A
1 paper
NM_014555.4
p.S98T
c.293G>C
1 paper
NM_014555.4
p.L108L
c.324C>A
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