Varaico: Literature-Extracted Genetic Variants

Gene:TSHZ3
Variant:p.P48L

TSHZ3

146 papers

RefSeq Summary

This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inac...

Pfam Domains

zf-C2H2_6aa 275–302UCSCC2H2-type zinc finger
HTH_TSHZ3aa 899–963UCSCTeashirt homolog 3-like, homeodomain

Gene Aliases

HGNC Name

teashirt zinc finger homeobox 3

HGNC Previous Symbol

ZNF537

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020856.4
p.P48L
c.143C>T
Surrounding Variants
1 paper
NM_020856.4
p.S42L
c.125C>T
1 paper
NM_020856.4
p.P41P
c.123C>A
1 paper
NM_020856.4
p.A55A
c.165C>T
2 papers
NM_020856.4
p.E40insFs
c.119_120dupAG
1 paper
NM_020856.4
p.C56F
c.167G>T
1 paper
NM_020856.4
p.S58G
c.172A>G
1 paper
NM_020856.4
p.A37G
c.110C>G
1 paper
NM_020856.4
p.T36M
c.107C>T
1 paper
NM_020856.4
p.P63L
c.188C>T
1 paper
NM_020856.4
p.P32S
c.94C>T
2 papers
NM_020856.4
p.A65T
c.193G>A
1 paper
NM_020856.4
p.E66*
c.196G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."