Varaico: Literature-Extracted Genetic Variants

Gene:METTL1
Variant:p.Q77H

METTL1

31 papers

RefSeq Summary

This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice v...

Pfam Domains

Methyltransf_4aa 76–254UCSCPutative methyltransferase

Gene Aliases

HGNC Name

methyltransferase 1, tRNA methylguanosine

HGNC Previous Symbol

C12orf1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005371.6
p.Q77H
c.231A>T
Surrounding Variants
1 paper
NM_005371.6
p.Q77H
c.231A>C
1 paper
NM_005371.6
p.F80Y
c.239T>A
1 paper
NM_005371.6
p.I83V
c.247A>G
1 paper
NM_005371.6
p.P66delFs
c.197delG
1 paper
NM_005371.6
p.P66fs
c.196_197fs
2 papers
NM_005371.6
p.F53L
c.159C>G
2 papers
NM_005371.6
p.F53L
c.159C>A
2 papers
NM_005371.6
p.F53L
c.157T>C
1 paper
NM_005371.6
p.R36P
c.107G>C
1 paper
NM_005371.6
p.H26Q
c.78C>G
1 paper
NM_005371.6
p.H26Q
c.78C>A
1 paper
NM_005371.6
p.H26R
c.77A>G
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