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.Y254F

c.761A>T

Surrounding Variants

1 paper

NM_020533.3

p.Y254H

c.760T>C

1 paper

NM_020533.3

p.C253Y

c.758G>A

1 paper

NM_020533.3

p.F256L

c.766T>C

1 paper

NM_020533.3

p.F256L

c.768C>A

1 paper

NM_020533.3

p.F256L

c.768C>G

1 paper

NM_020533.3

p.D252N

c.754G>A

1 paper

NM_020533.3

p.S257R

c.769A>C

3 papers

NM_020533.3

p.S257insFs

c.771dupC

1 paper

NM_020533.3

p.S257R

c.771C>A

1 paper

NM_020533.3

p.S257R

c.771C>G

1 paper

NM_020533.3

p.V258I

c.772G>A

3 papers

NM_020533.3

p.V258fs

c.772_773fs