Varaico: Literature-Extracted Genetic Variants

Gene:ZNF750
Variant:p.L170delFs

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.L170delFs
c.509_510delGA
Surrounding Variants
1 paper
NM_024702.3
p.L170del1
c.508_509delGAG
1 paper
NM_024702.3
p.G172_P173insFs
c.516_517insA
1 paper
NM_024702.3
p.P173fs
c.517_518fs
1 paper
NM_024702.3
p.D174E
c.522C>G
1 paper
NM_024702.3
p.D174E
c.522C>A
1 paper
NM_024702.3
p.E177*
c.529G>T
1 paper
NM_024702.3
p.V165F
c.493G>T
2 papers
NM_024702.3
p.E180K
c.538G>A
2 papers
NM_024702.3
p.T181S
c.541A>T
1 paper
NM_024702.3
p.T181R
c.542C>G
1 paper
NM_024702.3
p.S160P
c.478T>C
1 paper
NM_024702.3
p.R158fs
c.472_473fs
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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."