Varaico: Literature-Extracted Genetic Variants

MTMR9

56 papers

RefSeq Summary

This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded pr...

Pfam Domains

PH-GRAM_MTMR6-likeaa 11–100UCSCMTMR6-9, GRAM domain

Myotub-relatedaa 108–446UCSCMyotubularin-like phosphatase domain

Gene Aliases

HGNC Name

myotubularin related protein 9

HGNC Alias Symbols

DKFZp434K171; LIP-STYX

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

5 papers

NM_015458.4

p.N472I

c.1415A>T

4 papers

NM_015458.4

p.R359P

c.1076G>C

2 papers

NM_015458.4

p.N14S

c.41A>G

2 papers

NM_015458.4

p.S104A

c.310T>G

2 papers

NM_015458.4

p.P156A

c.466C>G

2 papers

NM_015458.4

p.V404M

c.1210G>A

2 papers

NM_015458.4

p.R409H

c.1226G>A

2 papers

NM_015458.4

p.R533*

c.1597C>T

1 paper

NM_015458.4

p.P20H

c.59C>A

1 paper

NM_015458.4

p.G27G

c.81C>A

1 paper

NM_015458.4

p.Q42K

c.124C>A

1 paper

NM_015458.4

p.T45M

c.134C>T