Varaico: Literature-Extracted Genetic Variants

Gene:ZNF75D
Variant:p.Q312*

ZNF75D

28 papers

RefSeq Summary

This gene encodes a protein that likely functions as a transcription factor. The protein, which belongs to the ZNF75 family, includes an N-terminal SCAN domain, a KRAB box, and five C2H2-type zinc fin...

Pfam Domains

SCANaa 45–134UCSCSCAN domain
KRABaa 234–275UCSCKRAB box
KRABaa 234–275UCSCKRAB box
zf-C2H2aa 365–387UCSCZinc finger, C2H2 type
zf-C2H2aa 393–415UCSCZinc finger, C2H2 type
zf-C2H2aa 421–443UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein 75D

HGNC Alias Symbols

ZKSCAN24; D8C6; ZSCAN28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007131.5
p.Q312*
c.934C>T
Surrounding Variants
1 paper
NM_007131.5
p.H467N
c.1399C>A
1 paper
NM_007131.5
p.Q475K
c.1423C>A
1 paper
NM_007131.5
p.R489*
c.1465C>T
1 paper
NM_007131.5
p.W249*
c.747G>A
1 paper
NM_007131.5
p.W249*
c.746G>A
1 paper
NM_007131.5
p.S233fs
c.697_698fs
1 paper
NM_007131.5
p.R216I
c.647G>T
1 paper
NM_007131.5
p.R216K
c.647G>A
1 paper
NM_007131.5
p.M208I
c.624G>T
1 paper
NM_007131.5
p.M208I
c.624G>C
1 paper
NM_007131.5
p.M208I
c.624G>A
1 paper
NM_007131.5
p.T195T
c.585C>T
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