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.L741F

c.2221C>T

Surrounding Variants

1 paper

NM_006885.4

p.L741I

c.2221C>A

1 paper

NM_006885.4

p.M745T

c.2234T>C

1 paper

NM_006885.4

p.S747delFs

c.2240delG

1 paper

NM_006885.4

p.N732_Y733insT

c.2194_2198ins3

1 paper

NM_006885.4

p.L751F

c.2251C>T

1 paper

NM_006885.4

p.N753ins2

c.2257_2258ins6

2 papers

NM_006885.4

p.C728*

c.2184C>A

2 papers

NM_006885.4

p.N753fs

c.2257_2258fs

1 paper

NM_006885.4

p.R727H

c.2180G>A

1 paper

NM_006885.4

p.M754insFs

c.2262dupG

1 paper

NM_006885.4

p.Q755H

c.2265G>T

1 paper

NM_006885.4

p.Q755H

c.2265G>C