Varaico: Literature-Extracted Genetic Variants

Gene:ZNF750
Variant:p.H287Q

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.H287Q
c.861C>G
Surrounding Variants
1 paper
NM_024702.3
p.H287Q
c.861C>A
2 papers
NM_024702.3
p.P288L
c.863C>T
1 paper
NM_024702.3
p.H283Y
c.847C>T
1 paper
NM_024702.3
p.P281fs
c.841_842fs
1 paper
NM_024702.3
p.P281insFs
c.841_842ins4
1 paper
NM_024702.3
p.D280E
c.840C>G
1 paper
NM_024702.3
p.D280E
c.840C>A
2 papers
NM_024702.3
p.Q279*
c.835C>T
1 paper
NM_024702.3
p.G277R
c.829G>C
1 paper
NM_024702.3
p.G277R
c.829G>A
3 papers
NM_024702.3
p.Y276*
c.828C>G
3 papers
NM_024702.3
p.Y276*
c.828C>A
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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."