Varaico: Literature-Extracted Genetic Variants

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-C2H2aa 1596–1620UCSCZinc finger, C2H2 type

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.I1767M

c.5301C>G

Surrounding Variants

2 papers

NM_006885.4

p.Q1770*

c.5308C>T

1 paper

NM_006885.4

p.Q1763_Q1770del8

c.5287_5309del24

1 paper

NM_006885.4

p.Q1753_H1755del3

c.5257_5264del9

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.Q1751ins2

c.5252_5253ins6

1 paper

NM_006885.4

p.Q1751E

c.5251C>G

1 paper

NM_001164766.2

p.T869del1

c.2605_2607delTGT

1 paper

NM_006885.4

p.E1785fs

c.5353_5354fs

1 paper

NM_006885.4

p.T1786N

c.5357C>A

1 paper

NM_001164766.2

p.E871delFs

c.2612_2613delCT

3 papers

NM_006885.4

p.Q1741ins0

c.5221_5223dupCAA