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.G448R

c.1342G>C

Surrounding Variants

1 paper

NM_020533.3

p.G448G

c.1344G>C

12 papers

NM_020533.3

p.L447P

c.1340T>C

1 paper

NM_020533.3

p.L447delFs

c.1341delG

1 paper

NM_020533.3

p.L447L

c.1339C>T

1 paper

NM_020533.3

p.P449_Y450del1

c.1346_1348delCCT

8 papers

NM_020533.3

p.V446M

c.1336G>A

21 papers

NM_020533.3

p.V446L

c.1336G>C

21 papers

NM_020533.3

p.V446L

c.1336G>T

1 paper

NM_020533.3

p.V446fs

c.1336_1337fs

2 papers

NM_020533.3

p.Y450H

c.1348T>C

1 paper

NM_020533.3

p.I445_V446insFs

c.1335_1336insT

1 paper

NM_020533.3

p.I445M

c.1335C>G