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.Y149D

c.445T>G

Surrounding Variants

1 paper

NM_020533.3

p.Y149insFs

c.445dupT

1 paper

NM_020533.3

p.A148V

c.443C>T

1 paper

NM_020533.3

p.A148P

c.442G>C

1 paper

NM_020533.3

p.R146P

c.437G>C

1 paper

NM_020533.3

p.G152A

c.455G>C

1 paper

NM_020533.3

p.G152G

c.456T>A

2 papers

NM_020533.3

p.G153R

c.457G>A

1 paper

NM_020533.3

p.G145S

c.433G>A

1 paper

NM_020533.3

p.L144Q

c.431T>A

1 paper

NM_020533.3

p.G154S

c.460G>A

1 paper

NM_020533.3

p.G154R

c.460G>C

1 paper

NM_020533.3

p.D155_P156del2

c.463_467del6