Varaico: Literature-Extracted Genetic Variants

Gene:HEMK2
Variant:p.N5S

HEMK2

23 papers

RefSeq Summary

This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved...

Pfam Domains

MTSaa 15–189UCSCMethyltransferase small domain

Gene Aliases

HGNC Name

HemK methyltransferase 2, ETF1 glutamine and histone H4 lysine

HGNC Previous Symbols

N6AMT1; C21orf127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013240.6
p.N5S
c.14A>G
Surrounding Variants
1 paper
NM_013240.6
p.E4G
c.11A>G
1 paper
NM_013240.6
p.M1K
c.2T>A
1 paper
NM_013240.6
p.D28N
c.82G>A
1 paper
NM_013240.6
p.G45E
c.134G>A
1 paper
NM_013240.6
p.G45Splc
c.135-890T>C
2 papers
NM_013240.6
p.A61S
c.181G>T
3 papers
NM_013240.6
p.D77A
c.230A>C
1 paper
NM_013240.6
p.D103A
c.308A>C
1 paper
NM_013240.6
p.P110L
c.329C>T
1 paper
NM_013240.6
p.L112F
c.336G>T
1 paper
NM_013240.6
p.L112F
c.336G>C
1 paper
NM_013240.6
p.V120M
c.358G>A
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