Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.P116L

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.P116L
c.347C>T
Surrounding Variants
1 paper
NM_024426.6
p.P116fs
c.346_347fs
2 papers
NM_024426.6
p.P116delFs
c.347delG
1 paper
NM_024426.6
p.P115del1
c.343_345delGGG
1 paper
NM_024426.6
p.P116T
c.346C>A
2 papers
NM_024426.6
p.G117R
c.349G>C
2 papers
NM_024426.6
p.G117S
c.349G>A
1 paper
NM_024426.6
p.P115L
c.344C>T
1 paper
NM_024426.6
p.P115H
c.344C>A
1 paper
NM_024426.6
p.A118P
c.352G>C
1 paper
NM_024426.6
p.V110_F113delFs
c.329_338del10
1 paper
NM_024426.6
p.V110_P115delins
c.328_343delinsTAAC
2 papers
NM_024426.6
p.A118V
c.353C>T
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