Varaico: Literature-Extracted Genetic Variants

Gene:ZFHX3
Variant:p.Q1751E

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.Q1751E
c.5251C>G
Surrounding Variants
1 paper
NM_006885.4
p.Q1751ins2
c.5252_5253ins6
1 paper
NM_006885.4
p.V1752A
c.5255T>C
1 paper
NM_006885.4
p.Q1751_V1752delins
c.5253_5255delinsGGC
1 paper
NM_006885.4
p.Q1753_H1755del3
c.5257_5264del9
3 papers
NM_006885.4
p.Q1741ins0
c.5221_5223dupCAA
1 paper
NM_006885.4
p.Q1740_Q1741ins0
c.5218_5223dup6
1 paper
NM_006885.4
p.A1742P
c.5224G>C
10 papers
NM_006885.4
p.Q1740del1
c.5218_5219delTTG
3 papers
NM_006885.4
p.Q1740_Q1741del0
c.5218_5223del6
2 papers
NM_006885.4
p.Q1739_Q1741del0
c.5215_5223del9
1 paper
NM_006885.4
p.Q1738_Q1741del0
c.5212_5223del12
1 paper
NM_006885.4
p.Q1741_A1742insFs
c.5223_5224insCA
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