Varaico: Literature-Extracted Genetic Variants

Gene:TSHZ3
Variant:p.V430I

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.V430I
c.1288G>A
Surrounding Variants
1 paper
NM_020856.4
p.D439N
c.1315G>A
1 paper
NM_020856.4
p.N416_M419delFs
c.1248_1257del10
3 papers
NM_020856.4
p.E469G
c.1406A>G
1 paper
NM_020856.4
p.E473D
c.1419A>T
1 paper
NM_020856.4
p.E473D
c.1419A>C
1 paper
NM_020856.4
p.K478N
c.1434A>T
1 paper
NM_020856.4
p.K478N
c.1434A>C
1 paper
NM_020856.4
p.R381W
c.1141C>T
1 paper
NM_020856.4
p.H377N
c.1129C>A
1 paper
NM_020856.4
p.Q487K
c.1459C>A
1 paper
NM_020856.4
p.D489Y
c.1465G>T
1 paper
NM_020856.4
p.G367S
c.1099G>A
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