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.L395P

c.1184T>C

Surrounding Variants

1 paper

NM_020533.3

p.L396L

c.1186C>T

2 papers

NM_020533.3

p.T394M

c.1181C>T

2 papers

NM_020533.3

p.L395_V397del3

c.1183_1190del9

1 paper

NM_020533.3

p.L390P

c.1169T>C

1 paper

NM_020533.3

p.L390R

c.1169T>G

1 paper

NM_020533.3

p.I402V

c.1204A>G

24 papers

NM_020533.3

p.R403C

c.1207C>T

1 paper

NM_020533.3

p.R403L

c.1208G>T

4 papers

NM_020533.3

p.Y404insFs

c.1210_1211insT

2 papers

NM_020533.3

p.Y404fs

c.1210_1211fs

1 paper

NM_020533.3

p.C386Y

c.1157G>A

1 paper

NM_020533.3

p.C386R

c.1156T>C