Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.P177T

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
6 papers
NM_001101677.2
p.P177T
c.529C>A
Surrounding Variants
2 papers
NM_001101677.2
p.S174L
c.521C>T
1 paper
NM_001101677.2
p.A173A
c.519G>C
1 paper
NM_001101677.2
p.A185V
c.554C>T
1 paper
NM_001101677.2
p.A185A
c.555G>A
1 paper
NM_001101677.2
p.L164L
c.490C>T
1 paper
NM_001101677.2
p.T200M
c.599C>T
1 paper
NM_001101677.2
p.A205E
c.614C>A
1 paper
NM_001101677.2
p.V212M
c.634G>A
1 paper
NM_001101677.2
p.L216V
c.646C>G
1 paper
NM_001101677.2
p.P218T
c.652C>A
1 paper
NM_001101677.2
p.R156Splc
c.467+41C>T
1 paper
NM_001101677.2
p.T135M
c.404C>T
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