Varaico: Literature-Extracted Genetic Variants

Gene:ALX1
Variant:p.D216D

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.D216D
c.648C>T
Surrounding Variants
1 paper
NM_006982.3
p.D216E
c.648C>A
1 paper
NM_006982.3
p.D216E
c.648C>G
1 paper
NM_006982.3
p.S217I
c.650G>T
1 paper
NM_006982.3
p.P219Q
c.656C>A
1 paper
NM_006982.3
p.A199A
c.597G>A
1 paper
NM_006982.3
p.Q220_I221Splc
c.660+56C>T
1 paper
NM_006982.3
p.R192H
c.575G>A
1 paper
NM_006982.3
p.R192C
c.574C>T
1 paper
NM_006982.3
p.R190G
c.568A>G
1 paper
NM_006982.3
p.A185T
c.553G>A
1 paper
NM_006982.3
p.R183Q
c.548G>A
1 paper
NM_006982.3
p.R183*
c.547C>T
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