Varaico: Literature-Extracted Genetic Variants

Gene:MTMR8
Variant:p.H3Y

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.H3Y
c.7C>T
Surrounding Variants
1 paper
NM_017677.4
p.M1K
c.2T>A
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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."