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

30 papers

NM_020533.3

p.T232P

c.694A>C

Surrounding Variants

1 paper

NM_020533.3

p.V231V

c.693C>A

1 paper

NM_020533.3

p.T232_N241delFs

c.694_722del29

2 papers

NM_020533.3

p.V231A

c.692T>C

1 paper

NM_020533.3

p.R236Q

c.707G>A

1 paper

NM_020533.3

p.K227Splc

c.681-1G>C

1 paper

NM_020533.3

p.L237_K238insFs

c.711_712insGG

1 paper

NM_020533.3

p.I240V

c.718A>G

5 papers

NM_020533.3

p.K227Splc

c.681-19A>C

1 paper

NM_020533.3

p.I246insFs

c.737_738insGA

1 paper

NM_020533.3

p.E249K

c.745G>A

1 paper

NM_020533.3

p.D252N

c.754G>A

1 paper

NM_020533.3

p.C253Y

c.758G>A