Varaico: Literature-Extracted Genetic Variants

Gene:ALX1
Variant:p.D36Y

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.D36Y
c.106G>T
Surrounding Variants
1 paper
NM_006982.3
p.T34M
c.101C>T
1 paper
NM_006982.3
p.S39T
c.115T>A
1 paper
NM_006982.3
p.S39C
c.116C>G
1 paper
NM_006982.3
p.A24P
c.70G>C
1 paper
NM_006982.3
p.A52D
c.155C>A
1 paper
NM_006982.3
p.N17delins
c.51delinsT
1 paper
NM_006982.3
p.K16K
c.48A>G
1 paper
NM_006982.3
p.P14_N17Fs
c.41_51delinsTFs
2 papers
NM_006982.3
p.H61R
c.182A>G
1 paper
NM_006982.3
p.H62L
c.185A>T
4 papers
NM_006982.3
p.R64C
c.190C>T
4 papers
NM_006982.3
p.R64L
c.191G>T
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