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.Q495K

c.1483C>A

Surrounding Variants

1 paper

NM_020533.3

p.S494F

c.1481C>T

1 paper

NM_020533.3

p.L496F

c.1486C>T

1 paper

NM_020533.3

p.F493I

c.1477T>A

1 paper

NM_020533.3

p.W491*

c.1473G>A

1 paper

NM_020533.3

p.W491G

c.1471T>G

1 paper

NM_020533.3

p.Y499*

c.1497C>A

1 paper

NM_020533.3

p.Y499*

c.1497C>G

1 paper

NM_020533.3

p.V490G

c.1469T>G

1 paper

NM_020533.3

p.V490M

c.1468G>A

1 paper

NM_020533.3

p.S500P

c.1498T>C

1 paper

NM_020533.3

p.S500F

c.1499C>T

1 paper

NM_020533.3

p.L489P

c.1466T>C