Varaico: Literature-Extracted Genetic Variants

Gene:HMX1
Variant:p.L72_E80delFs

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.L72_E80delFs
c.215_240del26
Surrounding Variants
1 paper
NM_018942.3
p.G79A
c.236G>C
1 paper
NM_018942.3
p.G78D
c.233G>A
1 paper
NM_018942.3
p.G78_R84insFs
c.233_251dup19
1 paper
NM_018942.3
p.A85P
c.253G>C
1 paper
NM_018942.3
p.A85fs
c.253_254fs
1 paper
NM_018942.3
p.G93R
c.277G>C
1 paper
NM_018942.3
p.P100L
c.299C>T
1 paper
NM_018942.3
p.C110R
c.328T>C
1 paper
NM_018942.3
p.D50N
c.148G>A
1 paper
NM_018942.3
p.F106_G111del6
c.316_332del18
2 papers
NM_018942.3
p.G112V
c.335G>T
1 paper
NM_018942.3
p.R34S
c.100C>A
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