Varaico: Literature-Extracted Genetic Variants

Gene:ZNF750
Variant:p.E545_N552delFs

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.E545_N552delFs
c.1633_1654del22
Surrounding Variants
1 paper
NM_024702.3
p.D548delFs
c.1642_1643delTC
1 paper
NM_024702.3
p.E545fs
c.1633_1634fs
2 papers
NM_024702.3
p.A541T
c.1621G>A
1 paper
NM_024702.3
p.Q537R
c.1610A>G
1 paper
NM_024702.3
p.R571*
c.1711C>T
1 paper
NM_024702.3
p.P572Q
c.1715C>A
1 paper
NM_024702.3
p.R573Q
c.1718G>A
1 paper
NM_024702.3
p.E576K
c.1726G>A
2 papers
NM_024702.3
p.A579V
c.1736C>T
1 paper
NM_024702.3
p.L516_S517insA
c.1546_1550ins3
1 paper
NM_024702.3
p.G589R
c.1765G>C
1 paper
NM_024702.3
p.G589_E591del3
c.1765_1772del9
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