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

2 papers

NM_020533.3

p.F101fs

c.301_302fs

Surrounding Variants

2 papers

NM_020533.3

p.F101delFs

c.302_303delTC

1 paper

NM_020533.3

p.R102R

c.304C>A

17 papers

NM_020533.3

p.R102*

c.304C>T

1 paper

NM_020533.3

p.A100T

c.298G>A

1 paper

NM_020533.3

p.I99L

c.295A>C

1 paper

NM_020533.3

p.H103Y

c.307C>T

1 paper

NM_020533.3

p.T98insFs

c.292_293insC

1 paper

NM_020533.3

p.T98A

c.292A>G

1 paper

NM_020533.3

p.N97_T98insFs

c.291_292insC

1 paper

NM_020533.3

p.N97H

c.289A>C

1 paper

NM_020533.3

p.N97D

c.289A>G

1 paper

NM_020533.3

p.F105S

c.314T>C