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.F83V

c.247T>G

Surrounding Variants

1 paper

NM_020533.3

p.F83L

c.249T>A

1 paper

NM_020533.3

p.L82P

c.245T>C

1 paper

NM_020533.3

p.L82R

c.245T>G

2 papers

NM_020533.3

p.G84R

c.250G>A

1 paper

NM_020533.3

p.G84_L85insG

c.250_254ins3

1 paper

NM_020533.3

p.S86N

c.257G>A

1 paper

NM_020533.3

p.L89L

c.265C>T

1 paper

NM_020533.3

p.L89P

c.266T>C

1 paper

NM_020533.3

p.L89L

c.267G>T

1 paper

NM_020533.3

p.A90P

c.268G>C

1 paper

NM_020533.3

p.T92A

c.274A>G

1 paper

NM_020533.3

p.R94R

c.280C>A