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

2 papers

NM_020533.3

p.D180N

c.538G>A

Surrounding Variants

1 paper

NM_020533.3

p.D180A

c.539A>C

1 paper

NM_020533.3

p.N179S

c.536A>G

1 paper

NM_020533.3

p.N179Y

c.535A>T

1 paper

NM_020533.3

p.P177A

c.529C>G

1 paper

NM_020533.3

p.D183N

c.547G>A

1 paper

NM_020533.3

p.D183G

c.548A>G

1 paper

NM_020533.3

p.D183E

c.549C>A

1 paper

NM_020533.3

p.D183E

c.549C>G

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.I184N

c.551T>A

4 papers

NM_020533.3

p.I184T

c.551T>C