Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH2
Variant:p.K18R

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.K18R
c.53A>G
Surrounding Variants
2 papers
NM_017826.3
p.L70F
c.210G>T
1 paper
NM_017826.3
p.K71*
c.211A>T
1 paper
NM_017826.3
p.P73S
c.217C>T
1 paper
NM_017826.3
p.S77_A78delFs
c.231_232delCA
3 papers
NM_017826.3
p.E79K
c.235G>A
1 paper
NM_017826.3
p.E80V
c.239A>T
1 paper
NM_017826.3
p.E80D
c.240G>T
1 paper
NM_017826.3
p.E80D
c.240G>C
1 paper
NM_017826.3
p.K85R
c.254A>G
1 paper
NM_017826.3
p.K85T
c.254A>C
1 paper
NM_017826.3
p.I87V
c.259A>G
1 paper
NM_017826.3
p.V100_F101delFs
c.298_301del4
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