Varaico: Literature-Extracted Genetic Variants

Gene:RAX
Variant:p.H20_L21insFs

RAX

82 papers

RefSeq Summary

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination an...

Pfam Domains

Homeodomainaa 137–193UCSCHomeodomain
OARaa 319–337UCSCOAR motif

Gene Aliases

HGNC Name

retina and anterior neural fold homeobox

HGNC Alias Symbols

RX; RAX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013435.3
p.H20_L21insFs
c.60_61insG
Surrounding Variants
2 papers
NM_013435.3
p.A18D
c.53C>A
1 paper
NM_013435.3
p.P25L
c.74C>T
1 paper
NM_013435.3
p.P25P
c.75G>A
1 paper
NM_013435.3
p.S24_S30delFs
c.70_89del20
4 papers
NM_013435.3
p.M10L
c.28A>T
4 papers
NM_013435.3
p.M10L
c.28A>C
1 paper
NM_013435.3
p.A9insFs
c.26dupC
1 paper
NM_013435.3
p.E36*
c.106G>T
2 papers
NM_013435.3
p.I38T
c.113T>C
1 paper
NM_013435.3
p.H2R
c.5A>G
4 papers
NM_013435.3
p.D44E
c.132C>G
4 papers
NM_013435.3
p.D44E
c.132C>A
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