Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.V98M

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.V98M
c.292G>A
Surrounding Variants
1 paper
NM_001101677.2
p.F100_L101delFs
c.298_301del4
1 paper
NM_001101677.2
p.S92L
c.275C>T
1 paper
NM_001101677.2
p.A106T
c.316G>A
1 paper
NM_001101677.2
p.A106V
c.317C>T
1 paper
NM_001101677.2
p.A106A
c.318C>A
1 paper
NM_001101677.2
p.Q82E
c.244C>G
1 paper
NM_001101677.2
p.A115T
c.343G>A
1 paper
NM_001101677.2
p.L79L
c.235C>T
1 paper
NM_001101677.2
p.R77_A78delFs
c.231_232delCC
1 paper
NM_001101677.2
p.A115_I116Splc
c.345+15T>A
1 paper
NM_001101677.2
p.S70S
c.210G>A
1 paper
NM_001101677.2
p.R68Q
c.203G>A
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