Varaico: Literature-Extracted Genetic Variants

Gene:ZNF750
Variant:p.Y46*

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.Y46*
c.138T>G
Surrounding Variants
1 paper
NM_024702.3
p.Y46fs
c.136_137fs
1 paper
NM_024702.3
p.Y46*
c.138T>A
1 paper
NM_024702.3
p.G47S
c.139G>A
1 paper
NM_024702.3
p.K45fs
c.133_134fs
1 paper
NM_024702.3
p.K45insFs
c.134_135insA
2 papers
NM_024702.3
p.M44R
c.131T>G
1 paper
NM_024702.3
p.C49R
c.145T>C
1 paper
NM_024702.3
p.F41Y
c.122T>A
2 papers
NM_024702.3
p.S52L
c.155C>T
1 paper
NM_024702.3
p.L40R
c.119T>G
1 paper
NM_024702.3
p.L40V
c.118C>G
1 paper
NM_024702.3
p.L40I
c.118C>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."