Varaico: Literature-Extracted Genetic Variants

Gene:CMTR1
Variant:p.T730delFs

CMTR1

37 papers

Pfam Domains

G-patchaa 87–131UCSCG-patch domain
FtsJaa 232–449UCSCFtsJ-like methyltransferase

Gene Aliases

HGNC Name

cap methyltransferase 1

HGNC Previous Symbols

KIAA0082; FTSJD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015050.3
p.T730delFs
c.2189delC
Surrounding Variants
1 paper
NM_015050.3
p.T730fs
c.2188_2189fs
1 paper
NM_015050.3
p.G726S
c.2176G>A
1 paper
NM_015050.3
p.E720E
c.2160G>A
1 paper
NM_015050.3
p.V826I
c.2476G>A
1 paper
NM_015050.3
p.I658L
c.1972A>C
1 paper
NM_015050.3
p.E644A
c.1931A>C
1 paper
NM_015050.3
p.R617C
c.1849C>T
1 paper
NM_015050.3
p.T613T
c.1839A>G
1 paper
NM_015050.3
p.S598G
c.1792A>G
1 paper
NM_015050.3
p.T581I
c.1742C>T
1 paper
NM_015050.3
p.L538L
c.1614C>T
2 papers
NM_015050.3
p.T521M
c.1562C>T
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