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

21 papers

NM_020533.3

p.F465L

c.1393T>C

Surrounding Variants

1 paper

NM_020533.3

p.F465delFs

c.1394delT

21 papers

NM_020533.3

p.F465L

c.1395C>A

21 papers

NM_020533.3

p.F465L

c.1395C>G

1 paper

NM_020533.3

p.L464insFs

c.1390_1391insA

1 paper

NM_020533.3

p.L464fs

c.1390_1391fs

1 paper

NM_020533.3

p.S466L

c.1397C>T

6 papers

NM_020533.3

p.C463Y

c.1388G>A

2 papers

NM_020533.3

p.I468V

c.1402A>G

1 paper

NM_020533.3

p.E462*

c.1384G>T

1 paper

NM_020533.3

p.S461F

c.1382C>T

3 papers

NM_020533.3

p.N469D

c.1405A>G

1 paper

NM_020533.3

p.S461A

c.1381T>G