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

1 paper

NM_002420.6

p.L99H

c.296T>A

Surrounding Variants

7 papers

NM_002420.6

p.L99P

c.296T>C

NM_001252024.2

p.L121P

c.362T>C

NM_001252020.2

p.L138P

c.413T>C

1 paper

NM_002420.6

p.L100*

c.299T>G

1 paper

NM_002420.6

p.L100S

c.299T>C

1 paper

NM_002420.6

p.I101T

c.302T>C

1 paper

NM_002420.6

p.I101del1

c.301_302delTAT

1 paper

NM_002420.6

p.L94insFs

c.281dupT

1 paper

NM_001252024.2

p.G127E

c.380G>A

1 paper

NM_001252024.2

p.G128C

c.382G>T

1 paper

NM_001252024.2

p.G127delFs

c.381delT

1 paper

NM_001252024.2

p.K112delFs

c.336delT

1 paper

NM_001252024.2

p.K112Q

c.334A>C

1 paper

NM_001252024.2

p.L106_V111del6

c.316_332del18