Varaico: Literature-Extracted Genetic Variants

Gene:MTMR7
Variant:p.R514*

MTMR7

45 papers

RefSeq Summary

This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of t...

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 7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004686.5
p.R514*
c.1540C>T
Surrounding Variants
1 paper
NM_004686.5
p.R514Q
c.1541G>A
1 paper
NM_004686.5
p.P513S
c.1537C>T
1 paper
NM_004686.5
p.K509*
c.1525A>T
1 paper
NM_004686.5
p.Y520C
c.1559A>G
2 papers
NM_004686.5
p.M522T
c.1565T>C
1 paper
NM_004686.5
p.K498Splc
c.1494-91C>A
1 paper
NM_004686.5
p.S566*
c.1697C>G
1 paper
NM_004686.5
p.S566*
c.1697C>A
1 paper
NM_004686.5
p.A576T
c.1726G>A
1 paper
NM_004686.5
p.R592W
c.1774C>T
1 paper
NM_004686.5
p.R592G
c.1774C>G
1 paper
NM_004686.5
p.T491S
c.1471A>T
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."