Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.L344R

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.L344R
c.1031T>G
Surrounding Variants
1 paper
NM_001101677.2
p.E340*
c.1018G>T
1 paper
NM_001101677.2
p.A329T
c.985G>A
1 paper
NM_001101677.2
p.A327A
c.981A>G
1 paper
NM_001101677.2
p.A327T
c.979G>A
1 paper
NM_001101677.2
p.G323del1
c.967_968delGCC
1 paper
NM_001101677.2
p.G322_G323del1
c.966_968delCCT
2 papers
NM_001101677.2
p.S317F
c.950C>T
1 paper
NM_001101677.2
p.G316Splc
c.947-5T>G
2 papers
NM_001101677.2
p.E376K
c.1126G>A
1 paper
NM_001101677.2
p.G316Splc
c.947-37C>A
1 paper
NM_001101677.2
p.G316Splc
c.947-163G>A
1 paper
NM_001101677.2
p.G316Splc
c.947-240G>A
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