Varaico: Literature-Extracted Genetic Variants

Gene:SP8

SP8

54 papers

RefSeq Summary

The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have...

Pfam Domains

zf-C2H2aa 356–380UCSCZinc finger, C2H2 type
zf-C2H2aa 386–410UCSCZinc finger, C2H2 type
zf-C2H2aa 416–438UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp8 transcription factor

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
3 papers
NM_182700.6
p.G165del1
c.493_494delGCC
2 papers
NM_182700.6
p.S55delFs
c.165delC
2 papers
NM_182700.6
p.S261*
c.782C>A
2 papers
NM_182700.6
p.P493_L495del3
c.1477_1484del9
1 paper
NM_182700.6
p.C24_I27delFs
c.70_79del10
1 paper
NM_182700.6
p.P30_S33delFs
c.88_97del10
1 paper
NM_182700.6
p.K46K
c.138A>G
1 paper
NM_182700.6
p.H49delFs
c.147delG
1 paper
NM_182700.6
p.K52N
c.156A>T
1 paper
NM_182700.6
p.K52N
c.156A>C
1 paper
NM_182700.6
p.A77_R79delFs
c.231_235del5
1 paper
NM_182700.6
p.S70_R79del0
c.210_236del27
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."