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

Selected Variant

2 papers

NM_015458.4

p.S104A

c.310T>G

Surrounding Variants

1 paper

NM_015458.4

p.R114C

c.340C>T

1 paper

NM_015458.4

p.R114L

c.341G>T

1 paper

NM_015458.4

p.S126C

c.377C>G

1 paper

NM_015458.4

p.F127I

c.379T>A

1 paper

NM_015458.4

p.T140N

c.419C>A

2 papers

NM_015458.4

p.P156A

c.466C>G

1 paper

NM_015458.4

p.L173V

c.517C>G

1 paper

NM_015458.4

p.V176L

c.526G>C

1 paper

NM_015458.4

p.V176L

c.526G>T

1 paper

NM_015458.4

p.R184C

c.550C>T

1 paper

NM_015458.4

p.N195delFs

c.584delA

1 paper

NM_015458.4

p.K193fs

c.577_578fs