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.A132V

c.395C>T

Surrounding Variants

1 paper

NM_020533.3

p.V133M

c.397G>A

1 paper

NM_020533.3

p.H131Q

c.393T>A

1 paper

NM_020533.3

p.H131P

c.392A>C

4 papers

NM_020533.3

p.A132_V133del1

c.395_397delCTG

7 papers

NM_020533.3

p.Q135_Y136Splc

c.405+1G>A

1 paper

NM_020533.3

p.A128D

c.383C>A

1 paper

NM_020533.3

p.Y126*

c.378C>A

2 papers

NM_020533.3

p.Y126*

c.378C>G

1 paper

NM_020533.3

p.Q127delFs

c.379delC

1 paper

NM_020533.3

p.L125P

c.374T>C

1 paper

NM_020533.3

p.Q124*

c.370C>T

1 paper

NM_020533.3

p.R122Q

c.365G>A