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.R486G

c.1456C>G

Surrounding Variants

1 paper

NM_020533.3

p.R486C

c.1456C>T

1 paper

NM_020533.3

p.S487G

c.1459A>G

1 paper

NM_020533.3

p.Q484_G485insFs

c.1452_1453insG

1 paper

NM_020533.3

p.S488insFs

c.1463_1464insGG

1 paper

NM_020533.3

p.S488insFs

c.1463_1464ins11

3 papers

NM_020533.3

p.S488fs

c.1462_1463fs

1 paper

NM_020533.3

p.Q484K

c.1450C>A

1 paper

NM_020533.3

p.Q484fs

c.1450_1451fs

1 paper

NM_020533.3

p.Q483*

c.1447C>T

1 paper

NM_020533.3

p.A482A

c.1446G>T

1 paper

NM_020533.3

p.L489P

c.1466T>C

1 paper

NM_020533.3

p.A482G

c.1445C>G