Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.C2535ins2

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.C2535ins2
c.7604_7605ins6
Surrounding Variants
1 paper
NM_006885.4
p.Y2530C
c.7589A>G
1 paper
NM_006885.4
p.P2540P
c.7620G>A
1 paper
NM_006885.4
p.E2543fs
c.7627_7628fs
1 paper
NM_006885.4
p.A2521V
c.7562C>T
1 paper
NM_006885.4
p.L2520delFs
c.7558delG
1 paper
NM_006885.4
p.L2520V
c.7558C>G
1 paper
NM_006885.4
p.L2520fs
c.7558_7559fs
1 paper
NM_006885.4
p.Q2518*
c.7552C>T
1 paper
NM_006885.4
p.P2517S
c.7549C>T
1 paper
NM_006885.4
p.L2554delFs
c.7660delG
2 papers
NM_006885.4
p.T2516I
c.7547C>T
1 paper
NM_006885.4
p.S2515L
c.7544C>T
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