Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.R2322Q

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.R2322Q
c.6965G>A
Surrounding Variants
1 paper
NM_006885.4
p.S2324R
c.6970A>C
1 paper
NM_006885.4
p.S2324R
c.6972C>G
1 paper
NM_006885.4
p.S2324R
c.6972C>A
1 paper
NM_006885.4
p.N2325D
c.6973A>G
1 paper
NM_006885.4
p.D2318N
c.6952G>A
1 paper
NM_006885.4
p.T2316I
c.6947C>T
1 paper
NM_006885.4
p.E2314Q
c.6940G>C
1 paper
NM_006885.4
p.R2313C
c.6937C>T
1 paper
NM_006885.4
p.R2312Q
c.6935G>A
1 paper
NM_006885.4
p.C2330_K2332del3
c.6988_6995del9
1 paper
NM_006885.4
p.R2339C
c.7015C>T
1 paper
NM_006885.4
p.R2339L
c.7016G>T
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