Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH2
Variant:p.N296K

SOHLH2

49 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 13. The proteins encoded by t...

Pfam Domains

HLHaa 203–253UCSCHelix-loop-helix DNA-binding domain

Gene Aliases

HGNC Name

spermatogenesis and oogenesis specific basic helix-loop-helix 2

HGNC Alias Symbols

FLJ20449; TEB1; bHLHe81; SPATA28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017826.3
p.N296K
c.888C>G
Surrounding Variants
1 paper
NM_017826.3
p.N296K
c.888C>A
1 paper
NM_017826.3
p.R294W
c.880C>T
1 paper
NM_017826.3
p.V298_T301del4
c.892_902del12
1 paper
NM_017826.3
p.N317N
c.951T>C
2 papers
NM_017826.3
p.T321P
c.961A>C
1 paper
NM_017826.3
p.R294W
c.880C>T
1 paper
NM_017826.3
p.I282T
c.845T>C
1 paper
NM_017826.3
p.Q278*
c.832C>T
1 paper
NM_017826.3
p.K276T
c.827A>C
1 paper
NM_017826.3
p.T265A
c.793A>G
2 papers
NM_017826.3
p.V260I
c.778G>A
1 paper
NM_017826.3
p.K250E
c.748A>G
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