Varaico: Literature-Extracted Genetic Variants

MCOLN3

114 papers

RefSeq Summary

This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant...

Pfam Domains

MCLN_ECDaa 87–270UCSCMucolipin, extracytosolic domain

PKD_channelaa 363–508UCSCPolycystin cation channel

Gene Aliases

HGNC Name

mucolipin TRP cation channel 3

HGNC Alias Symbols

TRPML3; FLJ11006; TRP-ML3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018298.11

p.A420P

c.1258G>C

Surrounding Variants

1 paper

NM_018298.11

p.A420T

c.1258G>A

1 paper

NM_018298.11

p.A420V

c.1259C>T

1 paper

NM_018298.11

p.A420G

c.1259C>G

1 paper

NM_018298.11

p.A420D

c.1259C>A

3 papers

NM_018298.11

p.A419V

c.1256C>T

6 papers

NM_018298.11

p.A419G

c.1256C>G

1 paper

NM_018298.11

p.A419E

c.1256C>A

54 papers

NM_018298.11

p.A419P

c.1255G>C

1 paper

NM_018298.11

p.A419T

c.1255G>A

1 paper

NM_018298.11

p.F415I

c.1243T>A

1 paper

NM_018298.11

p.N411_I413del0

c.1232_1237del6

1 paper

NM_018298.11

p.W431L

c.1292G>T