Varaico: Literature-Extracted Genetic Variants

Gene:ZNF750
Variant:p.A135E

ZNF750

118 papers

RefSeq Summary

This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [prov...

Pfam Domains

zf-C2H2_7aa 5–58UCSCZinc-finger

Gene Aliases

HGNC Name

zinc finger protein 750

HGNC Alias Symbols

FLJ13841; Zfp750

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024702.3
p.A135E
c.404C>A
Surrounding Variants
1 paper
NM_024702.3
p.R134fs
c.400_401fs
1 paper
NM_024702.3
p.R134_A135insA
c.400_404ins3
1 paper
NM_024702.3
p.C138insFs
c.412_413insA
1 paper
NM_024702.3
p.C138*
c.414C>A
1 paper
NM_024702.3
p.S140fs
c.418_419fs
1 paper
NM_024702.3
p.A142T
c.424G>A
1 paper
NM_024702.3
p.Q128*
c.382C>T
1 paper
NM_024702.3
p.C125*
c.375C>A
1 paper
NM_024702.3
p.A146P
c.436G>C
1 paper
NM_024702.3
p.H123fs
c.367_368fs
1 paper
NM_024702.3
p.Q150E
c.448C>G
1 paper
NM_024702.3
p.R120W
c.358C>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."