Varaico: Literature-Extracted Genetic Variants

Gene:SIX4
Variant:p.I478V

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.I478V
c.1432A>G
Surrounding Variants
1 paper
NM_017420.5
p.I478S
c.1433T>G
1 paper
NM_017420.5
p.G490R
c.1468G>C
1 paper
NM_017420.5
p.G490R
c.1468G>A
1 paper
NM_017420.5
p.D465G
c.1394A>G
1 paper
NM_017420.5
p.T460ins3
c.1379_1380ins9
2 papers
NM_017420.5
p.G446D
c.1337G>A
1 paper
NM_017420.5
p.T432A
c.1294A>G
1 paper
NM_017420.5
p.S397A
c.1189T>G
2 papers
NM_017420.5
p.Y332N
c.994T>A
1 paper
NM_017420.5
p.S313F
c.938C>T
1 paper
NM_017420.5
p.H310R
c.929A>G
1 paper
NM_017420.5
p.G303insFs
c.909dupA
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."