Varaico: Literature-Extracted Genetic Variants

Gene:ALX1
Variant:p.K113N

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
1 paper
NM_006982.3
p.K113N
c.339G>T
Surrounding Variants
1 paper
NM_006982.3
p.K113N
c.339G>C
1 paper
NM_006982.3
p.G114V
c.341G>T
1 paper
NM_006982.3
p.L119R
c.356T>G
1 paper
NM_006982.3
p.D121E
c.363T>A
1 paper
NM_006982.3
p.D121E
c.363T>G
1 paper
NM_006982.3
p.S130N
c.389G>A
1 paper
NM_006982.3
p.R94S
c.282A>C
1 paper
NM_006982.3
p.R94S
c.282A>T
1 paper
NM_006982.3
p.T90A
c.268A>G
1 paper
NM_006982.3
p.H89R
c.266A>G
1 paper
NM_006982.3
p.P87H
c.260C>A
2 papers
NM_006982.3
p.T140I
c.419C>T
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