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

1–12 of 650 variants

39 papers

NM_020533.3

p.Q135_Y136Splc

c.406-2A>G

30 papers

NM_020533.3

p.T232P

c.694A>C

26 papers

NM_020533.3

p.D362Y

c.1084G>T

24 papers

NM_020533.3

p.R403C

c.1207C>T

21 papers

NM_020533.3

p.V446L

c.1336G>C

21 papers

NM_020533.3

p.V446L

c.1336G>T

21 papers

NM_020533.3

p.F465L

c.1393T>C

21 papers

NM_020533.3

p.F465L

c.1395C>A

21 papers

NM_020533.3

p.F465L

c.1395C>G

17 papers

NM_020533.3

p.R102*

c.304C>T

12 papers

NM_020533.3

p.L106P

c.317T>C

12 papers

NM_020533.3

p.R172*

c.514C>T