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.D472A

c.1415A>C

Surrounding Variants

1 paper

NM_020533.3

p.D472E

c.1416C>A

1 paper

NM_020533.3

p.D472E

c.1416C>G

1 paper

NM_020533.3

p.M473_F474del2

c.1417_1421del6

2 papers

NM_020533.3

p.D472N

c.1414G>A

1 paper

NM_020533.3

p.F474L

c.1420T>C

1 paper

NM_020533.3

p.G470A

c.1409G>C

1 paper

NM_020533.3

p.F474L

c.1422T>A

1 paper

NM_020533.3

p.F474L

c.1422T>G

5 papers

NM_020533.3

p.N469S

c.1406A>G

1 paper

NM_020533.3

p.V475A

c.1424T>C

3 papers

NM_020533.3

p.N469D

c.1405A>G

1 paper

NM_020533.3

p.T476delFs

c.1426_1427delAC