Varaico: Literature-Extracted Genetic Variants

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.E199K

c.595G>A

Surrounding Variants

1 paper

NM_014555.4

p.G194V

c.581G>T

1 paper

NM_014555.4

p.P191fs

c.571_572fs

1 paper

NM_014555.4

p.P191fs

c.571_572fs

1 paper

NM_014555.4

p.G189fs

c.565_566fs

1 paper

NM_014555.4

p.G171D

c.512G>A

1 paper

NM_014555.4

p.P159S

c.475C>T

1 paper

NM_014555.4

p.Q155*

c.463C>T

1 paper

NM_014555.4

p.E153K

c.457G>A

1 paper

NM_014555.4

p.R149H

c.446G>A

1 paper

NM_014555.4

p.S141L

c.422C>T

1 paper

NM_014555.4

p.V134V

c.402G>A

1 paper

NM_014555.4

p.T128M

c.383C>T