Varaico: Literature-Extracted Genetic Variants

Gene:ALX1
Variant:p.I221V

ALX1

66 papers

RefSeq Summary

The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the ce...

Pfam Domains

Homeodomainaa 133–189UCSCHomeodomain
OARaa 302–320UCSCOAR motif

Gene Aliases

HGNC Name

ALX homeobox 1

HGNC Previous Symbol

CART1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006982.3
p.I221V
c.661A>G
Surrounding Variants
2 papers
NM_006982.3
p.Q220_I221Splc
c.661-1G>C
1 paper
NM_006982.3
p.A230V
c.689C>T
1 paper
NM_006982.3
p.P251T
c.751C>A
1 paper
NM_006982.3
p.R257G
c.769C>G
1 paper
NM_006982.3
p.R257W
c.769C>T
1 paper
NM_006982.3
p.S306C
c.917C>G
1 paper
NM_006982.3
p.H318P
c.953A>C
1 paper
NM_006982.3
p.A320V
c.959C>T
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