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.G108C

c.322G>T

Surrounding Variants

1 paper

NM_020533.3

p.G108delFs

c.322delG

1 paper

NM_020533.3

p.L107insFs

c.320dupT

1 paper

NM_020533.3

p.Y109C

c.326A>G

1 paper

NM_020533.3

p.L106L

c.318G>C

1 paper

NM_020533.3

p.Y109*

c.327C>G

12 papers

NM_020533.3

p.L106P

c.317T>C

1 paper

NM_020533.3

p.S110A

c.328T>G

1 paper

NM_020533.3

p.F105S

c.314T>C

1 paper

NM_020533.3

p.L106insFs

c.316dupC

1 paper

NM_020533.3

p.G112R

c.334G>C

1 paper

NM_020533.3

p.G112A

c.335G>C

1 paper

NM_020533.3

p.H103Y

c.307C>T