Varaico: Literature-Extracted Genetic Variants

Gene:TSHZ3
Variant:p.L134P

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.L134P
c.401T>C
Surrounding Variants
1 paper
NM_020856.4
p.W131L
c.392G>T
1 paper
NM_020856.4
p.S143L
c.428C>T
1 paper
NM_020856.4
p.Y122*
c.366C>G
1 paper
NM_020856.4
p.Y122*
c.366C>A
2 papers
NM_020856.4
p.G148S
c.442G>A
1 paper
NM_020856.4
p.A120A
c.360C>T
1 paper
NM_020856.4
p.S153S
c.459C>T
1 paper
NM_020856.4
p.S153_S154del1
c.459_461delCTG
1 paper
NM_020856.4
p.S159del1
c.475_476delGCT
1 paper
NM_020856.4
p.D108H
c.322G>C
1 paper
NM_020856.4
p.D108N
c.322G>A
1 paper
NM_020856.4
p.V104Fs
c.311delinsGTAFs
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