Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.L30L

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.L30L
c.90A>G
Surrounding Variants
1 paper
NM_024426.6
p.L30L
c.90A>C
1 paper
NM_024426.6
p.Q31*
c.91C>T
1 paper
NM_024426.6
p.Q31delFs
c.91delG
1 paper
NM_024426.6
p.Q31H
c.93G>T
1 paper
NM_024426.6
p.Q31H
c.93G>C
1 paper
NM_024426.6
p.Q31Q
c.93G>A
1 paper
NM_024426.6
p.C29*
c.87C>A
1 paper
NM_024426.6
p.C29delFs
c.86delC
2 papers
NM_024426.6
p.G28_C29del1
c.84_86delCAC
1 paper
NM_024426.6
p.C29delins
c.85delinsTCCC
1 paper
NM_024426.6
p.C29S
c.86G>C
1 paper
NM_024426.6
p.G28del1
c.82_83delCCC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."