Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH2
Variant:p.E105G

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
4 papers
NM_017826.3
p.E105G
c.314A>G
Surrounding Variants
1 paper
NM_017826.3
p.V100_F101delFs
c.298_301del4
1 paper
NM_017826.3
p.S112L
c.335C>T
1 paper
NM_017826.3
p.L120F
c.360A>T
1 paper
NM_017826.3
p.L120F
c.360A>C
1 paper
NM_017826.3
p.S141T
c.421T>A
1 paper
NM_017826.3
p.N148S
c.443A>G
1 paper
NM_017826.3
p.G156R
c.466G>A
1 paper
NM_017826.3
p.L159M
c.475C>A
1 paper
NM_017826.3
p.S162F
c.485C>T
1 paper
NM_017826.3
p.S164S
c.492C>T
2 papers
NM_017826.3
p.E165K
c.493G>A
2 papers
NM_017826.3
p.C177Splc
c.530+6T>G
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