Varaico: Literature-Extracted Genetic Variants

Gene:KLF11
Variant:p.E248K

KLF11

127 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apopto...

Pfam Domains

zf-C2H2aa 394–418UCSCZinc finger, C2H2 type
zf-C2H2aa 424–448UCSCZinc finger, C2H2 type
zf-C2H2aa 454–476UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

KLF transcription factor 11

HGNC Previous Symbol

TIEG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001177716.2
p.E248K
c.742G>A
NM_003597.5
p.E265K
c.793G>A
Surrounding Variants
1 paper
NM_003597.5
p.Y264fs
c.790_791fs
1 paper
NM_003597.5
p.Y264delFs
c.791delA
2 papers
NM_003597.5
p.P261L
c.782C>T
1 paper
NM_003597.5
p.Q257R
c.770A>G
1 paper
NM_003597.5
p.P274S
c.820C>T
1 paper
NM_003597.5
p.P274L
c.821C>T
2 papers
NM_003597.5
p.G251E
c.752G>A
1 paper
NM_003597.5
p.P283P
c.849C>T
1 paper
NM_003597.5
p.K246fs
c.736_737fs
1 paper
NM_003597.5
p.K246_G247delFs
c.736_739del4
1 paper
NM_003597.5
p.T244I
c.731C>T
1 paper
NM_003597.5
p.L286F
c.856C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."