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.Y136C

c.407A>G

Surrounding Variants

1 paper

NM_020533.3

p.L137V

c.409C>G

39 papers

NM_020533.3

p.Q135_Y136Splc

c.406-2A>G

3 papers

NM_020533.3

p.L137P

c.410T>C

1 paper

NM_020533.3

p.A138V

c.413C>T

1 paper

NM_020533.3

p.D141delFs

c.422delA

1 paper

NM_020533.3

p.V142delFs

c.426delG

1 paper

NM_020533.3

p.S143T

c.427T>A

1 paper

NM_020533.3

p.S143_L144ins1

c.429_430insGCA

1 paper

NM_020533.3

p.L144Q

c.431T>A

1 paper

NM_020533.3

p.G145S

c.433G>A

1 paper

NM_020533.3

p.R146P

c.437G>C

1 paper

NM_020533.3

p.A148P

c.442G>C