Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.S207*

ALX4

172 papers

RefSeq Summary

This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina...

Pfam Domains

Homeodomainaa 215–271UCSCHomeodomain
OARaa 387–405UCSCOAR motif

Gene Aliases

HGNC Name

ALX homeobox 4

HGNC Previous Symbol

PFM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_021926.4
p.S207*
c.620C>G
Surrounding Variants
1 paper
NM_021926.4
p.S207L
c.620C>T
5 papers
NM_021926.4
p.S207*
c.620C>A
7 papers
NM_021926.4
p.S207S
c.621A>G
1 paper
NM_021926.4
p.S209R
c.625A>C
1 paper
NM_021926.4
p.S209R
c.627C>G
1 paper
NM_021926.4
p.S209R
c.627C>A
8 papers
NM_021926.4
p.K211E
c.631A>G
3 papers
NM_021926.4
p.L202W
c.605T>G
1 paper
NM_021926.4
p.S200insFs
c.600dupC
1 paper
NM_021926.4
p.P201L
c.602C>T
2 papers
NM_021926.4
p.R216W
c.646C>T
6 papers
NM_021926.4
p.R216G
c.646C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."