Varaico: Literature-Extracted Genetic Variants

TRPM1

227 papers

RefSeq Summary

This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expr...

Pfam Domains

LSDAT_eukaa 70–335UCSCSLOG in TRPM

TRPM2aa 454–726UCSCTRPM2-like domain

Ion_transaa 823–1087UCSCIon transport protein

TRPM_tetraaa 1179–1234UCSCTetramerisation domain of TRPM

Gene Aliases

HGNC Name

transient receptor potential cation channel subfamily M member 1

HGNC Previous Symbol

MLSN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_001252024.2

p.Y94C

c.281A>G

NM_002420.6

p.Y72C

c.215A>G

NM_001252020.2

p.Y111C

c.332A>G

Surrounding Variants

1 paper

NM_002420.6

p.M71_Y72Splc

c.214-2A>G

5 papers

NM_002420.6

p.R74C

c.220C>T

NM_001252020.2

p.R113C

c.337C>T

1 paper

NM_001252020.2

p.R113H

c.338G>A

4 papers

NM_001252024.2

p.S98F

c.293C>T

1 paper

NM_002420.6

p.P81_D82insA

c.241_245ins3

1 paper

NM_002420.6

p.D82insFs

c.245dupA

2 papers

NM_002420.6

p.D82_L84delins

c.245_250delinsGTGAAAGAT

1 paper

NM_001252024.2

p.L106P

c.317T>C

1 paper

NM_002420.6

p.M88K

c.263T>A

1 paper

NM_001252024.2

p.K112Q

c.334A>C

1 paper

NM_001252024.2

p.L106_V111del6

c.316_332del18

1 paper

NM_001252024.2

p.K112delFs

c.336delT