Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.S386*

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
9 papers
NM_024426.6
p.S386*
c.1157C>A
Surrounding Variants
1 paper
NM_024426.6
p.S386insFs
c.1156_1157ins11
1 paper
NM_024426.6
p.S386insFs
c.1156_1157ins5
1 paper
NM_024426.6
p.S386ins2
c.1156_1157ins6
3 papers
NM_024426.6
p.R385insFs
c.1155dupG
1 paper
NM_024426.6
p.R385insFs
c.1154_1155dupGG
1 paper
NM_024426.6
p.V384_R385insFs
c.1152_1155dup4
1 paper
NM_000378.6
p.R368delFs
c.1104delC
1 paper
NM_024426.6
p.V379_R385del7
c.1135_1154del21
1 paper
NM_024426.6
p.V376_R385del10
c.1126_1154del30
1 paper
NM_024426.6
p.S386insFs
c.1157dupC
2 papers
NM_024426.6
p.R385_S386insFs
c.1153_1157dup5
2 papers
NM_024426.6
p.L383_S386insFs
c.1148_1157dup10
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