Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.P235delFs

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
Selected Variant
3 papers
NM_001101677.2
p.P235delFs
c.705delA
Surrounding Variants
1 paper
NM_001101677.2
p.K236fs
c.706_707fs
2 papers
NM_001101677.2
p.P235fs
c.703_704fs
1 paper
NM_001101677.2
p.G231_R232del2
c.691_695del6
1 paper
NM_001101677.2
p.R232L
c.695G>T
2 papers
NM_001101677.2
p.S248L
c.743C>T
2 papers
NM_001101677.2
p.S223C
c.668C>G
1 paper
NM_001101677.2
p.L253F
c.759G>T
1 paper
NM_001101677.2
p.L253F
c.759G>C
1 paper
NM_001101677.2
p.P254L
c.761C>T
1 paper
NM_001101677.2
p.V255M
c.763G>A
1 paper
NM_001101677.2
p.G268G
c.804G>T
4 papers
NM_001101677.2
p.P269S
c.805C>T
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