Varaico: Literature-Extracted Genetic Variants

Gene:MTMR6
Variant:p.N514S

MTMR6

43 papers

Pfam Domains

PH-GRAM_MTMR6-likeaa 8–99UCSCMTMR6-9, GRAM domain
Myotub-relatedaa 107–446UCSCMyotubularin-like phosphatase domain

Gene Aliases

HGNC Name

myotubularin related protein 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004685.5
p.N514S
c.1541A>G
Surrounding Variants
1 paper
NM_004685.5
p.E527D
c.1581G>T
1 paper
NM_004685.5
p.E527D
c.1581G>C
1 paper
NM_004685.5
p.E476D
c.1428A>T
1 paper
NM_004685.5
p.E476D
c.1428A>C
1 paper
NM_004685.5
p.E476G
c.1427A>G
1 paper
NM_004685.5
p.L461F
c.1381C>T
2 papers
NM_004685.5
p.A414D
c.1241C>A
1 paper
NM_004685.5
p.P559L
c.1676C>T
1 paper
NM_004685.5
p.P559P
c.1677T>C
1 paper
NM_004685.5
p.S561*
c.1682C>G
1 paper
NM_004685.5
p.S561*
c.1682C>A
1 paper
NM_004685.5
p.S567delFs
c.1699delA
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