Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.E279E

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
1 paper
NM_001101677.2
p.E279E
c.837G>A
Surrounding Variants
1 paper
NM_001101677.2
p.P280T
c.838C>A
1 paper
NM_001101677.2
p.E279K
c.835G>A
1 paper
NM_001101677.2
p.L277L
c.831G>T
1 paper
NM_001101677.2
p.E290Q
c.868G>C
4 papers
NM_001101677.2
p.P269S
c.805C>T
2 papers
NM_001101677.2
p.G268_P269delins
c.804_805delinsTT
1 paper
NM_001101677.2
p.G268G
c.804G>T
1 paper
NM_001101677.2
p.V255M
c.763G>A
1 paper
NM_001101677.2
p.P254L
c.761C>T
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.G292Splc
c.875+42G>A
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