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

2 papers

NM_006885.4

p.P1692S

c.5074C>T

Surrounding Variants

1 paper

NM_006885.4

p.L1693insFs

c.5077dupC

1 paper

NM_006885.4

p.L1693fs

c.5077_5078fs

1 paper

NM_006885.4

p.P1707T

c.5119C>A

1 paper

NM_006885.4

p.S1676G

c.5026A>G

1 paper

NM_006885.4

p.E1709*

c.5125G>T

1 paper

NM_006885.4

p.A1710T

c.5128G>A

1 paper

NM_006885.4

p.G1672S

c.5014G>A

2 papers

NM_001164766.2

p.N753fs

c.2257_2258fs

1 paper

NM_006885.4

p.N1667insFs

c.4999_5000insCT

2 papers

NM_006885.4

p.M1718L

c.5152A>T

2 papers

NM_006885.4

p.M1718L

c.5152A>C

1 paper

NM_006885.4

p.N1661D

c.4981A>G