Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.P130P

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.P130P
c.390A>C
Surrounding Variants
4 papers
NM_024426.6
p.P130L
c.389C>T
2 papers
NM_024426.6
p.P131S
c.391C>T
1 paper
NM_024426.6
p.P131T
c.391C>A
1 paper
NM_024426.6
p.P130insFs
c.388_389insAC
1 paper
NM_024426.6
p.P130fs
c.388_389fs
1 paper
NM_024426.6
p.G126_P131ins2
c.378_392dup15
1 paper
NM_024426.6
p.P129fs
c.385_386fs
1 paper
NM_024426.6
p.P127_P129delFs
c.379_385del7
6 papers
NM_024426.6
p.P129L
c.386C>T
1 paper
NM_024426.6
p.G126_P129delFs
c.376_385del10
1 paper
NM_024426.6
p.S123_P129delFs
c.369_385del17
2 papers
NM_024426.6
p.P129S
c.385C>T
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