Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1

SOHLH1

88 papers

RefSeq Summary

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are...

Pfam Domains

HLHaa 56–104UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

spermatogenesis and oogenesis specific basic helix-loop-helix 1

HGNC Previous Symbol

C9orf157

Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
16 papers
NM_001101677.2
p.A115_I116Splc
c.346-1G>A
7 papers
NM_001101677.2
p.C31R
c.91T>C
7 papers
NM_001101677.2
p.L306M
c.916C>A
6 papers
NM_001101677.2
p.P177T
c.529C>A
4 papers
NM_001101677.2
p.P269S
c.805C>T
3 papers
NM_001101677.2
p.Y9*
c.27C>G
3 papers
NM_001101677.2
p.Y9*
c.27C>A
3 papers
NM_001101677.2
p.R37Q
c.110G>A
3 papers
NM_001101677.2
p.P235delFs
c.705delA
2 papers
NM_001101677.2
p.R56W
c.166C>T
2 papers
NM_001101677.2
p.S174L
c.521C>T
2 papers
NM_001101677.2
p.S223C
c.668C>G
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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."