Varaico: Literature-Extracted Genetic Variants

Gene:SPZ1
Variant:p.K81*

SPZ1

29 papers

RefSeq Summary

This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tum...

Gene Aliases

HGNC Name

spermatogenic leucine zipper 1

HGNC Alias Symbols

NYD-TSP1; FLJ25709; PPP1R148

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032567.4
p.K81*
c.241A>T
Surrounding Variants
2 papers
NM_032567.4
p.K81fs
c.241_242fs
1 paper
NM_032567.4
p.K81delFs
c.241delA
1 paper
NM_032567.4
p.E75*
c.223G>T
1 paper
NM_032567.4
p.N71S
c.212A>G
1 paper
NM_032567.4
p.A66S
c.196G>T
1 paper
NM_032567.4
p.G48V
c.143G>T
2 papers
NM_032567.4
p.M122I
c.366G>A
2 papers
NM_032567.4
p.M122I
c.366G>C
2 papers
NM_032567.4
p.M122I
c.366G>T
1 paper
NM_032567.4
p.I32N
c.95T>A
3 papers
NM_032567.4
p.E143Q
c.427G>C
1 paper
NM_032567.4
p.L146M
c.436T>A
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