Varaico: Literature-Extracted Genetic Variants

Gene:SIX4
Variant:p.L165F

SIX4

64 papers

RefSeq Summary

This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions ...

Pfam Domains

SIX1_SDaa 108–218UCSCTranscriptional regulator, SIX1, N-terminal SD domain
Homeodomainaa 228–280UCSCHomeodomain

Gene Aliases

HGNC Name

SIX homeobox 4

HGNC Alias Symbol

AREC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017420.5
p.L165F
c.493C>T
Surrounding Variants
1 paper
NM_017420.5
p.I168M
c.504C>G
1 paper
NM_017420.5
p.A156insFs
c.467_468insT
1 paper
NM_017420.5
p.E175Q
c.523G>C
1 paper
NM_017420.5
p.E175V
c.524A>T
1 paper
NM_017420.5
p.K150_A153del4
c.448_458del12
1 paper
NM_017420.5
p.R152R
c.456G>A
1 paper
NM_017420.5
p.W134C
c.402G>T
1 paper
NM_017420.5
p.W134C
c.402G>C
1 paper
NM_017420.5
p.G203insFs
c.608_609ins7
1 paper
NM_017420.5
p.V205G
c.614T>G
1 paper
NM_017420.5
p.E118K
c.352G>A
1 paper
NM_017420.5
p.H112Y
c.334C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."