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.I502I

c.1506C>T

Surrounding Variants

1 paper

NM_020533.3

p.I502V

c.1504A>G

2 papers

NM_020533.3

p.I502fs

c.1504_1505fs

1 paper

NM_020533.3

p.S503N

c.1508G>A

1 paper

NM_020533.3

p.S503R

c.1509C>G

1 paper

NM_020533.3

p.L504F

c.1510C>T

2 papers

NM_020533.3

p.F501insFs

c.1503dupC

1 paper

NM_020533.3

p.S500F

c.1499C>T

1 paper

NM_020533.3

p.F505L

c.1513T>C

1 paper

NM_020533.3

p.F505Y

c.1514T>A

1 paper

NM_020533.3

p.S500P

c.1498T>C

1 paper

NM_020533.3

p.F505S

c.1514T>C

1 paper

NM_020533.3

p.Y499*

c.1497C>A