Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.P2042A

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.P2042A
c.6124C>G
Surrounding Variants
1 paper
NM_006885.4
p.E2038_P2039del2
c.6112_6116del6
1 paper
NM_006885.4
p.P2044P
c.6132T>C
1 paper
NM_006885.4
p.P2045P
c.6135A>C
1 paper
NM_006885.4
p.P2047P
c.6141T>C
1 paper
NM_006885.4
p.P2048R
c.6143C>G
2 papers
NM_006885.4
p.P2048P
c.6144A>C
1 paper
NM_006885.4
p.P2034H
c.6101C>A
1 paper
NM_006885.4
p.P2043_P2045del0
c.6127_6135del9
1 paper
NM_006885.4
p.Y2030_P2031del2
c.6088_6092del6
1 paper
NM_006885.4
p.P2052L
c.6155C>T
1 paper
NM_006885.4
p.P2031S
c.6091C>T
1 paper
NM_006885.4
p.A2054V
c.6161C>T
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