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

4 papers

NM_015458.4

p.R359P

c.1076G>C

Surrounding Variants

1 paper

NM_015458.4

p.A347S

c.1039G>T

1 paper

NM_015458.4

p.S339C

c.1016C>G

1 paper

NM_015458.4

p.D338E

c.1014T>A

1 paper

NM_015458.4

p.D338E

c.1014T>G

1 paper

NM_015458.4

p.D338A

c.1013A>C

1 paper

NM_015458.4

p.R379C

c.1135C>T

1 paper

NM_015458.4

p.R379H

c.1136G>A

1 paper

NM_015458.4

p.A381V

c.1142C>T

1 paper

NM_015458.4

p.Y385N

c.1153T>A

1 paper

NM_015458.4

p.L399F

c.1195C>T

2 papers

NM_015458.4

p.V404M

c.1210G>A

1 paper

NM_015458.4

p.R409C

c.1225C>T