Varaico: Literature-Extracted Genetic Variants

Gene:L3MBTL2
Variant:p.Q237L

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.Q237L
c.710A>T
Surrounding Variants
2 papers
NM_031488.5
p.S234P
c.700T>C
5 papers
NM_031488.5
p.A233P
c.697G>C
1 paper
NM_031488.5
p.N220D
c.658A>G
1 paper
NM_031488.5
p.H200_V201Splc
c.601-10C>T
1 paper
NM_031488.5
p.C273G
c.817T>G
1 paper
NM_031488.5
p.D292G
c.875A>G
1 paper
NM_031488.5
p.R300W
c.898C>T
1 paper
NM_031488.5
p.V302G
c.905T>G
1 paper
NM_031488.5
p.P169Q
c.506C>A
1 paper
NM_031488.5
p.R339H
c.1016G>A
1 paper
NM_031488.5
p.L353L
c.1057C>T
1 paper
NM_031488.5
p.R394*
c.1180C>T
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