Varaico: Literature-Extracted Genetic Variants

Gene:TRPM5
Variant:p.S220C

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.S220C
c.658A>T
Surrounding Variants
6 papers
NM_014555.4
p.N235S
c.704A>G
1 paper
NM_014555.4
p.Q246K
c.736C>A
3 papers
NM_014555.4
p.V254A
c.761T>C
1 paper
NM_014555.4
p.A260T
c.778G>A
1 paper
NM_014555.4
p.L266L
c.796C>T
1 paper
NM_014555.4
p.L266I
c.796C>A
1 paper
NM_014555.4
p.V274V
c.822G>A
1 paper
NM_014555.4
p.S292C
c.875C>G
1 paper
NM_014555.4
p.Q304fs
c.910_911fs
1 paper
NM_014555.4
p.V329L
c.985G>C
1 paper
NM_014555.4
p.V335L
c.1003G>T
1 paper
NM_014555.4
p.V335L
c.1003G>C
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