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.A515E

c.1544C>A

Surrounding Variants

1 paper

NM_020533.3

p.A515T

c.1543G>A

1 paper

NM_020533.3

p.L516I

c.1546C>A

1 paper

NM_020533.3

p.I517T

c.1550T>C

1 paper

NM_020533.3

p.S511N

c.1532G>A

1 paper

NM_020533.3

p.S511I

c.1532G>T

1 paper

NM_020533.3

p.Y521H

c.1561T>C

1 paper

NM_020533.3

p.Y521S

c.1562A>C

1 paper

NM_020533.3

p.V509A

c.1526T>C

1 paper

NM_020533.3

p.V509G

c.1526T>G

1 paper

NM_020533.3

p.Y521*

c.1563C>A

1 paper

NM_020533.3

p.Y521*

c.1563C>G

1 paper

NM_020533.3

p.D522E

c.1566C>A