Varaico: Literature-Extracted Genetic Variants

Gene:ZNF750
Variant:p.S70*

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
3 papers
NM_024702.3
p.S70*
c.209C>G
Surrounding Variants
3 papers
NM_024702.3
p.S70*
c.209C>A
1 paper
NM_024702.3
p.P73L
c.218C>T
1 paper
NM_024702.3
p.P66delFs
c.197delG
1 paper
NM_024702.3
p.T76I
c.227C>T
1 paper
NM_024702.3
p.V62I
c.184G>A
2 papers
NM_024702.3
p.R61Q
c.182G>A
3 papers
NM_024702.3
p.R61*
c.181C>T
1 paper
NM_024702.3
p.P79fs
c.235_236fs
1 paper
NM_024702.3
p.D60delFs
c.180delA
1 paper
NM_024702.3
p.D60fs
c.178_179fs
1 paper
NM_024702.3
p.T82A
c.244A>G
1 paper
NM_024702.3
p.S57delFs
c.170delG
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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."