Varaico: Literature-Extracted Genetic Variants

Gene:SP6
Variant:p.K334E

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.K334E
c.1000A>G
Surrounding Variants
1 paper
NM_001258248.2
p.E337Q
c.1009G>C
1 paper
NM_001258248.2
p.G338D
c.1013G>A
1 paper
NM_001258248.2
p.G338G
c.1014C>T
1 paper
NM_001258248.2
p.A339P
c.1015G>C
1 paper
NM_001258248.2
p.E341_E342del1
c.1022_1024delCCT
1 paper
NM_001258248.2
p.E341_E342del2
c.1021_1025del6
1 paper
NM_001258248.2
p.F323fs
c.967_968fs
1 paper
NM_001258248.2
p.V322insFs
c.965_966insGT
1 paper
NM_001258248.2
p.E350K
c.1048G>A
1 paper
NM_001258248.2
p.G355D
c.1064G>A
1 paper
NM_001258248.2
p.E358Q
c.1072G>C
1 paper
NM_001258248.2
p.E358E
c.1074G>A
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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."