Varaico: Literature-Extracted Genetic Variants

MTMR1

36 papers

RefSeq Summary

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spl...

Pfam Domains

GRAMaa 92–206UCSCGRAM domain

Myotub-relatedaa 213–360UCSCMyotubularin-like phosphatase domain

Myotub-relatedaa 213–550UCSCMyotubularin-like phosphatase domain

Gene Aliases

HGNC Name

myotubularin related protein 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

3 papers

NM_001306144.3

p.A10_G11del1

c.29_31delCGG

1 paper

NM_001306144.3

p.M1R

c.2T>G

1 paper

NM_001306144.3

p.D2delFs

c.4_5delGA

1 paper

NM_001306144.3

p.P4_A5del2

c.10_14del6

1 paper

NM_001306144.3

p.G11_E13del3

c.31_38del9

1 paper

NM_001306144.3

p.P22T

c.64C>A

1 paper

NM_001306144.3

p.R81G

c.241A>G

1 paper

NM_001306144.3

p.K119R

c.356A>G

1 paper

NM_001306144.3

p.E148*

c.442G>T

1 paper

NM_001306144.3

p.N189S

c.566A>G

1 paper

NM_001306144.3

p.R191Q

c.572G>A

1 paper

NM_001306144.3

p.H211L

c.632A>T