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

4 papers

NM_002420.6

p.Q11*

c.31C>T

NM_001252020.2

p.Q50*

c.148C>T

Surrounding Variants

1 paper

NM_002420.6

p.C7Y

c.20G>A

2 papers

NM_002420.6

p.R6W

c.16A>T

1 paper

NM_002420.6

p.R6Splc

c.18-3C>T

1 paper

NM_002420.6

p.R6Splc

c.18-3C>G

1 paper

NM_002420.6

p.I17delFs

c.50delA

2 papers

NM_002420.6

p.S22N

c.65G>A

NM_001252024.2

p.S44N

c.131G>A

1 paper

NM_001252024.2

p.A45T

c.133G>A

1 paper

NM_001252024.2

p.A45V

c.134C>T

1 paper

NM_001252024.2

p.T46K

c.137C>A

1 paper

NM_001252024.2

p.P47fs

c.139_140fs

1 paper

NM_002420.6

p.T24_P25delFs

c.71_74del4

1 paper

NM_002420.6

p.K27_N28insFs

c.81_82insA