Varaico: Literature-Extracted Genetic Variants

Gene:SIX3
Variant:p.L199L

SIX3

156 papers

RefSeq Summary

This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosenceph...

Pfam Domains

SIX1_SDaa 87–201UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeodomainaa 207–263UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 3

HGNC Previous Symbol

HPE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005413.4
p.L199L
c.595C>T
Surrounding Variants
1 paper
NM_005413.4
p.P200delFs
c.598delC
1 paper
NM_005413.4
p.P200S
c.598C>T
2 papers
NM_005413.4
p.P200R
c.599C>G
1 paper
NM_005413.4
p.R201H
c.602G>A
4 papers
NM_005413.4
p.T202I
c.605C>T
1 paper
NM_005413.4
p.K196insFs
c.586_587insAA
2 papers
NM_005413.4
p.R194insFs
c.582dupC
1 paper
NM_005413.4
p.W204*
c.611G>A
1 paper
NM_005413.4
p.V193E
c.578T>A
1 paper
NM_005413.4
p.V193delFs
c.579delG
1 paper
NM_005413.4
p.V193M
c.577G>A
3 papers
NM_005413.4
p.R192R
c.576C>T
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