Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.S26F

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.S26F
c.77C>T
Surrounding Variants
1 paper
NM_001101677.2
p.G23A
c.68G>C
7 papers
NM_001101677.2
p.C31R
c.91T>C
3 papers
NM_001101677.2
p.R37Q
c.110G>A
1 paper
NM_001101677.2
p.G38G
c.114C>A
1 paper
NM_001101677.2
p.G40R
c.118G>C
1 paper
NM_001101677.2
p.T46K
c.137C>A
1 paper
NM_001101677.2
p.A48T
c.142G>A
2 papers
NM_001101677.2
p.R56W
c.166C>T
1 paper
NM_001101677.2
p.R57W
c.169C>T
1 paper
NM_001101677.2
p.V18I
c.52G>A
1 paper
NM_001101677.2
p.P16P
c.48T>C
1 paper
NM_001101677.2
p.R14K
c.41G>A
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