Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.P2138S

ZFHX3

624 papers

RefSeq Summary

This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-...

Pfam Domains

zf-C2H2_ZFHX3aa 1040–1064UCSCZinc finger homeobox protein 3-like, C2H2 type zinc-finger
zf-C2H2_ZFHX3aa 1040–1064UCSCZinc finger homeobox protein 3-like, C2H2 type zinc-finger
zf-C2H2aa 1596–1620UCSCZinc finger, C2H2 type
zf-C2H2aa 1596–1620UCSCZinc finger, C2H2 type
Homeodomainaa 2146–2202UCSCHomeodomain
Homeodomainaa 2146–2202UCSCHomeodomain

Gene Aliases

HGNC Name

zinc finger homeobox 3

HGNC Previous Symbols

ATBF1; C16orf47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006885.4
p.P2138S
c.6412C>T
Surrounding Variants
1 paper
NM_006885.4
p.L2136V
c.6406C>G
1 paper
NM_006885.4
p.L2131L
c.6393C>G
2 papers
NM_006885.4
p.R2149H
c.6446G>A
5 papers
NM_006885.4
p.A2126V
c.6377C>T
1 paper
NM_006885.4
p.G2119E
c.6356G>A
1 paper
NM_006885.4
p.P2116L
c.6347C>T
1 paper
NM_006885.4
p.L2160F
c.6480G>T
1 paper
NM_006885.4
p.L2160F
c.6480G>C
3 papers
NM_006885.4
p.Q2113*
c.6337C>T
1 paper
NM_006885.4
p.F2164L
c.6490T>C
1 paper
NM_006885.4
p.F2164L
c.6492T>G
1 paper
NM_006885.4
p.F2164L
c.6492T>A
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