Varaico: Literature-Extracted Genetic Variants

Gene:L3MBTL2
Variant:p.R339H

L3MBTL2

51 papers

Pfam Domains

zf-FCS_1aa 88–118UCSCZinc finger, FCS-type
MBTaa 214–287UCSCmbt repeat
MBTaa 327–393UCSCmbt repeat
MBTaa 432–504UCSCmbt repeat
MBTaa 540–608UCSCmbt repeat

Gene Aliases

HGNC Name

L3MBTL histone methyl-lysine binding protein 2

HGNC Alias Symbols

H-l(3)mbt-l; DKFZP761I141; dJ756G23.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031488.5
p.R339H
c.1016G>A
Surrounding Variants
1 paper
NM_031488.5
p.L353L
c.1057C>T
1 paper
NM_031488.5
p.R394*
c.1180C>T
1 paper
NM_031488.5
p.D438fs
c.1312_1313fs
1 paper
NM_031488.5
p.D438insFs
c.1314dupC
1 paper
NM_031488.5
p.N441N
c.1323T>C
1 paper
NM_031488.5
p.K452_V453Splc
c.1357-72G>A
1 paper
NM_031488.5
p.W510*
c.1529G>A
1 paper
NM_031488.5
p.W510*
c.1530G>A
1 paper
NM_031488.5
p.M529T
c.1586T>C
1 paper
NM_031488.5
p.V302G
c.905T>G
1 paper
NM_031488.5
p.R300W
c.898C>T
1 paper
NM_031488.5
p.D292G
c.875A>G
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