Varaico: Literature-Extracted Genetic Variants

Gene:SP6
Variant:p.H18Q

SP6

82 papers

RefSeq Summary

SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 moti...

Pfam Domains

zf-C2H2aa 254–278UCSCZinc finger, C2H2 type
zf-C2H2aa 284–308UCSCZinc finger, C2H2 type
zf-C2H2aa 314–336UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp6 transcription factor

HGNC Alias Symbol

Epfn

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001258248.2
p.H18Q
c.54C>A
Surrounding Variants
1 paper
NM_001258248.2
p.A19G
c.56C>G
1 paper
NM_001258248.2
p.P21T
c.61C>A
1 paper
NM_001258248.2
p.P21R
c.62C>G
1 paper
NM_001258248.2
p.P22S
c.64C>T
1 paper
NM_001258248.2
p.P22Q
c.65C>A
1 paper
NM_001258248.2
p.H13P
c.38A>C
1 paper
NM_001258248.2
p.G10D
c.29G>A
1 paper
NM_001258248.2
p.C6Y
c.17G>A
1 paper
NM_001258248.2
p.P38L
c.113C>T
1 paper
NM_001258248.2
p.P38H
c.113C>A
1 paper
NM_001258248.2
p.E39A
c.116A>C
1 paper
NM_001258248.2
p.A40V
c.119C>T
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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."