Varaico: Literature-Extracted Genetic Variants

Gene:HMX1
Variant:p.R153*

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
2 papers
NM_018942.3
p.R153*
c.457C>T
Surrounding Variants
1 paper
NM_018942.3
p.R153Q
c.458G>A
1 paper
NM_018942.3
p.E142_M144delFs
c.424_430del7
3 papers
NM_018942.3
p.E163*
c.487G>T
1 paper
NM_018942.3
p.A164V
c.491C>T
1 paper
NM_018942.3
p.P172S
c.514C>T
1 paper
NM_018942.3
p.S133T
c.398G>C
1 paper
NM_018942.3
p.A173V
c.518C>T
1 paper
NM_018942.3
p.T192K
c.575C>A
1 paper
NM_018942.3
p.T208A
c.622A>G
3 papers
NM_018942.3
p.Q217P
c.650A>C
1 paper
NM_018942.3
p.Q217delFs
c.650delT
2 papers
NM_018942.3
p.A231T
c.691G>A
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