Varaico: Literature-Extracted Genetic Variants

Gene:MTMR8
Variant:p.L52H

MTMR8

66 papers

RefSeq Summary

This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-bi...

Pfam Domains

PH-GRAM_MTMR6-likeaa 8–101UCSCMTMR6-9, GRAM domain
Myotub-relatedaa 109–448UCSCMyotubularin-like phosphatase domain

Gene Aliases

HGNC Name

myotubularin related protein 8

HGNC Alias Symbol

FLJ20126

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017677.4
p.L52H
c.155T>A
Surrounding Variants
1 paper
NM_017677.4
p.H91R
c.272A>G
1 paper
NM_017677.4
p.E92D
c.276G>T
1 paper
NM_017677.4
p.E92D
c.276G>C
1 paper
NM_017677.4
p.Q102P
c.305A>C
1 paper
NM_017677.4
p.A104T
c.310G>A
1 paper
NM_017677.4
p.W127R
c.379T>C
1 paper
NM_017677.4
p.W127R
c.379T>A
1 paper
NM_017677.4
p.R138L
c.413G>T
1 paper
NM_017677.4
p.N143Y
c.427A>T
1 paper
NM_017677.4
p.W49_I50Splc
c.147+2T>C
1 paper
NM_017677.4
p.I36M
c.108C>G
1 paper
NM_017677.4
p.L35V
c.103C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."