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.P511R

c.1532C>G

Surrounding Variants

1 paper

NM_006885.4

p.P511H

c.1532C>A

1 paper

NM_006885.4

p.A513A

c.1539C>T

1 paper

NM_006885.4

p.A514T

c.1540G>A

1 paper

NM_006885.4

p.P507A

c.1519C>G

2 papers

NM_006885.4

p.K521N

c.1563G>T

1 paper

NM_006885.4

p.K521fs

c.1561_1562fs

2 papers

NM_006885.4

p.K521N

c.1563G>C

1 paper

NM_006885.4

p.D522N

c.1564G>A

1 paper

NM_006885.4

p.E498K

c.1492G>A

1 paper

NM_006885.4

p.S526*

c.1577C>G

1 paper

NM_006885.4

p.S526*

c.1577C>A

1 paper

NM_006885.4

p.G493_L494del2

c.1477_1481del6