Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.S483Splc

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
2 papers
NM_024426.6
p.S483Splc
c.1447+1G>C
Surrounding Variants
1 paper
NM_024426.6
p.S483Splc
c.1447+1G>T
4 papers
NM_024426.6
p.S483Splc
c.1447+1G>A
1 paper
NM_024426.6
p.S483Splc
c.1447+2T>G
5 papers
NM_024426.6
p.S483Splc
c.1447+2T>C
2 papers
NM_024426.6
p.S483Splc
c.1447+2T>A
1 paper
NM_024426.6
p.S483C
c.1447A>T
1 paper
NM_024426.6
p.S483G
c.1447A>G
1 paper
NM_024426.6
p.S483R
c.1447A>C
1 paper
NM_024426.6
p.S483_E484insCA
c.1447_1451ins6
1 paper
NM_024426.6
p.S483Splc
c.1447+3G>T
1 paper
NM_024426.6
p.S483Splc
c.1447+3G>C
3 papers
NM_024426.6
p.S483Splc
c.1447+3G>A
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