Varaico: Literature-Extracted Genetic Variants

MCOLN1

521 papers

RefSeq Summary

This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functi...

Pfam Domains

MCLN_ECDaa 90–285UCSCMucolipin, extracytosolic domain

PKD_channelaa 378–524UCSCPolycystin cation channel

Gene Aliases

HGNC Name

mucolipin TRP cation channel 1

HGNC Alias Symbols

TRPML1; ML4; MLIV; MST080; MSTP080; TRPM-L1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020533.3

p.G173S

c.517G>A

Surrounding Variants

1 paper

NM_020533.3

p.G173R

c.517G>C

1 paper

NM_020533.3

p.G173D

c.518G>A

2 papers

NM_020533.3

p.G173A

c.518G>C

1 paper

NM_020533.3

p.G173delFs

c.519delC

12 papers

NM_020533.3

p.R172*

c.514C>T

1 paper

NM_020533.3

p.H174R

c.521A>G

1 paper

NM_020533.3

p.H171R

c.512A>G

2 papers

NM_020533.3

p.V175M

c.523G>A

2 papers

NM_020533.3

p.Y170Y

c.510C>T

1 paper

NM_020533.3

p.D176N

c.526G>A

1 paper

NM_020533.3

p.D176H

c.526G>C

1 paper

NM_020533.3

p.Y169F

c.506A>T