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.G162A

c.485G>C

Surrounding Variants

1 paper

NM_020533.3

p.G162E

c.485G>A

2 papers

NM_020533.3

p.G162R

c.484G>A

1 paper

NM_020533.3

p.G162R

c.484G>C

1 paper

NM_020533.3

p.G162G

c.486G>T

1 paper

NM_020533.3

p.L163P

c.488T>C

1 paper

NM_020533.3

p.A164T

c.490G>A

1 paper

NM_020533.3

p.L165F

c.493C>T

1 paper

NM_020533.3

p.N159fs

c.475_476fs

1 paper

NM_020533.3

p.T158I

c.473C>T

7 papers

NM_020533.3

p.C166F

c.497G>T

2 papers

NM_020533.3

p.T158delFs

c.473_474delCC

1 paper

NM_020533.3

p.T158fs

c.472_473fs