Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.A2G

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.A2G
c.5C>G
Surrounding Variants
1 paper
NM_001101677.2
p.M1_A2insFs
c.1_5dup5
1 paper
NM_001101677.2
p.A2T
c.4G>A
1 paper
NM_001101677.2
p.S3fs
c.7_8fs
1 paper
NM_001101677.2
p.R4del1
c.10_11delCCG
1 paper
NM_001101677.2
p.Y9Y
c.27C>T
3 papers
NM_001101677.2
p.Y9*
c.27C>G
3 papers
NM_001101677.2
p.Y9*
c.27C>A
1 paper
NM_001101677.2
p.P10L
c.29C>T
1 paper
NM_001101677.2
p.R14K
c.41G>A
1 paper
NM_001101677.2
p.P16P
c.48T>C
1 paper
NM_001101677.2
p.V18I
c.52G>A
1 paper
NM_001101677.2
p.G23A
c.68G>C
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