Varaico: Literature-Extracted Genetic Variants

Gene:ZFX
Variant:p.E527K

ZFX

76 papers

RefSeq Summary

This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains ...

Pfam Domains

Zfx_Zfy_actaa 70–410UCSCZfx/Zfy transcription activation region
zf-C2H2aa 425–447UCSCZinc finger, C2H2 type
zf-C2H2aa 488–510UCSCZinc finger, C2H2 type
zf-C2H2aa 548–570UCSCZinc finger, C2H2 type
zf-H2C2_5aa 576–601UCSCC2H2-type zinc-finger domain
zf-C2H2aa 662–684UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

zinc finger protein X-linked

HGNC Alias Symbol

ZNF926

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003410.4
p.E527K
c.1579G>A
Surrounding Variants
1 paper
NM_003410.4
p.Y526*
c.1578C>A
1 paper
NM_003410.4
p.Y526*
c.1578C>G
2 papers
NM_003410.4
p.R536C
c.1606C>T
1 paper
NM_003410.4
p.R536H
c.1607G>A
1 paper
NM_003410.4
p.N516D
c.1546A>G
1 paper
NM_003410.4
p.I549M
c.1647T>G
1 paper
NM_003410.4
p.F557L
c.1669T>C
1 paper
NM_003410.4
p.F557L
c.1671T>A
1 paper
NM_003410.4
p.F557L
c.1671T>G
1 paper
NM_003410.4
p.R558H
c.1673G>A
1 paper
NM_003410.4
p.G572G
c.1716G>T
1 paper
NM_003410.4
p.L475L
c.1423C>T
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