Varaico: Literature-Extracted Genetic Variants

Gene:ARGFX
Variant:p.Q260H

ARGFX

28 papers

RefSeq Summary

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as t...

Pfam Domains

Homeodomainaa 79–135UCSCHomeodomain

Gene Aliases

HGNC Name

arginine-fifty homeobox

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001012659.2
p.Q260H
c.780G>T
Surrounding Variants
1 paper
NM_001012659.2
p.Q260H
c.780G>C
1 paper
NM_001012659.2
p.S269N
c.806G>A
1 paper
NM_001012659.2
p.P237S
c.709C>T
1 paper
NM_001012659.2
p.S216S
c.648G>A
1 paper
NM_001012659.2
p.V214G
c.641T>G
1 paper
NM_001012659.2
p.T196I
c.587C>T
1 paper
NM_001012659.2
p.N154K
c.462T>A
1 paper
NM_001012659.2
p.N154K
c.462T>G
3 papers
NM_001012659.2
p.R145Q
c.434G>A
1 paper
NM_001012659.2
p.R129W
c.385C>T
1 paper
NM_001012659.2
p.L96fs
c.286_287fs
1 paper
NM_001012659.2
p.L96delFs
c.287delT
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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."