Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.Q72*

WT1

1,404 papers

RefSeq Summary

This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the norm...

Pfam Domains

WT1aa 1–321UCSCWilm's tumour protein
WT1aa 3–169UCSCWilm's tumour protein
WT1aa 74–377UCSCWilm's tumour protein
zf-C2H2aa 201–225UCSCZinc finger, C2H2 type
zf-C2H2aa 231–253UCSCZinc finger, C2H2 type
zf-C2H2aa 262–286UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

WT1 transcription factor

HGNC Previous Symbol

GUD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024426.6
p.Q72*
c.214C>T
Surrounding Variants
1 paper
NM_024426.6
p.E70_P71del2
c.208_212del6
1 paper
NM_024426.6
p.G68_P71del4
c.202_212del12
2 papers
NM_024426.6
p.P71P
c.213G>T
1 paper
NM_024426.6
p.Q72Q
c.216G>A
1 paper
NM_024426.6
p.P71L
c.212C>T
3 papers
NM_024426.6
p.P71S
c.211C>T
1 paper
NM_024426.6
p.E70delFs
c.209_210delCT
1 paper
NM_024426.6
p.Q73L
c.218A>T
1 paper
NM_024426.6
p.Q73P
c.218A>C
9 papers
NM_024426.6
p.E70*
c.208G>T
2 papers
NM_024426.6
p.E70K
c.208G>A
1 paper
NM_024426.6
p.S69Fs
c.206delinsCCFs
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