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.Y355S

c.1064A>C

Surrounding Variants

1 paper

NM_020533.3

p.Y355N

c.1063T>A

1 paper

NM_020533.3

p.W354*

c.1062G>A

1 paper

NM_020533.3

p.W354*

c.1061G>A

1 paper

NM_020533.3

p.N352S

c.1055A>G

1 paper

NM_020533.3

p.N352delFs

c.1056delT

1 paper

NM_020533.3

p.V359A

c.1076T>C

1 paper

NM_020533.3

p.T360P

c.1078A>C

1 paper

NM_020533.3

p.T360I

c.1079C>T

1 paper

NM_020533.3

p.S361N

c.1082G>A

1 paper

NM_020533.3

p.S361T

c.1082G>C

2 papers

NM_020533.3

p.D362N

c.1084G>A

26 papers

NM_020533.3

p.D362Y

c.1084G>T