Varaico: Literature-Extracted Genetic Variants

Gene:MTMR7
Variant:p.K465delFs

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.K465delFs
c.1394delT
Surrounding Variants
1 paper
NM_004686.5
p.K465fs
c.1393_1394fs
1 paper
NM_004686.5
p.R467Q
c.1400G>A
1 paper
NM_004686.5
p.T491S
c.1471A>T
1 paper
NM_004686.5
p.R448*
c.1342C>T
1 paper
NM_004686.5
p.L424*
c.1271T>A
1 paper
NM_004686.5
p.E394*
c.1180G>T
1 paper
NM_004686.5
p.R384*
c.1150C>T
1 paper
NM_004686.5
p.K498Splc
c.1494-91C>A
1 paper
NM_004686.5
p.K509*
c.1525A>T
1 paper
NM_004686.5
p.P513S
c.1537C>T
1 paper
NM_004686.5
p.R514*
c.1540C>T
1 paper
NM_004686.5
p.R514Q
c.1541G>A
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