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.R533*

c.1597C>T

Surrounding Variants

1 paper

NM_015458.4

p.Q535H

c.1605G>C

1 paper

NM_015458.4

p.Q535H

c.1605G>T

1 paper

NM_015458.4

p.E524Q

c.1570G>C

1 paper

NM_015458.4

p.V516_E520delFs

c.1546_1559del14

1 paper

NM_015458.4

p.P488A

c.1462C>G

5 papers

NM_015458.4

p.N472I

c.1415A>T

1 paper

NM_015458.4

p.W458R

c.1372T>A

1 paper

NM_015458.4

p.S456Y

c.1367C>A

1 paper

NM_015458.4

p.N440K

c.1320C>A

1 paper

NM_015458.4

p.N440K

c.1320C>G

1 paper

NM_015458.4

p.C413F

c.1238G>T

2 papers

NM_015458.4

p.R409H

c.1226G>A