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_001252024.2

p.L138P

c.413T>C

Surrounding Variants

1 paper

NM_002420.6

p.L116ins1

c.347_348insCAG

1 paper

NM_001252024.2

p.K139*

c.415A>T

1 paper

NM_001252024.2

p.Q140L

c.419A>T

1 paper

NM_001252024.2

p.G143E

c.428G>A

1 paper

NM_002420.6

p.L124L

c.370C>T

1 paper

NM_002420.6

p.L124insFs

c.371dupT

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.G127E

c.380G>A

1 paper

NM_001252024.2

p.A149A

c.447T>G

1 paper

NM_002420.6

p.A128T

c.382G>A

1 paper

NM_002420.6

p.I101del1

c.301_302delTAT