Varaico: Literature-Extracted Genetic Variants

Gene:HMX1
Variant:p.A268E

HMX1

60 papers

RefSeq Summary

This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial...

Pfam Domains

Homeodomainaa 204–260UCSCHomeodomain

Gene Aliases

HGNC Name

H6 family homeobox 1

HGNC Alias Symbols

H6; NKX5-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018942.3
p.A268E
c.803C>A
Surrounding Variants
1 paper
NM_018942.3
p.A269P
c.805G>C
1 paper
NM_018942.3
p.S272P
c.814T>C
1 paper
NM_018942.3
p.A264A
c.792C>T
1 paper
NM_018942.3
p.R278C
c.832C>T
1 paper
NM_018942.3
p.V280A
c.839T>C
1 paper
NM_018942.3
p.P291T
c.871C>A
1 paper
NM_018942.3
p.E244K
c.730G>A
1 paper
NM_018942.3
p.A293A
c.879A>G
5 papers
NM_018942.3
p.A294P
c.880G>C
1 paper
NM_018942.3
p.Q241R
c.722A>G
1 paper
NM_018942.3
p.A295A
c.885C>T
1 paper
NM_018942.3
p.T301_L302insFs
c.903_904insT
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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."