Varaico: Literature-Extracted Genetic Variants

Gene:WT1
Variant:p.R394C

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
37 papers
NM_024426.6
p.R394C
c.1180C>T
Surrounding Variants
7 papers
NM_024426.6
p.R394G
c.1180C>G
1 paper
NM_024426.6
p.R394insFs
c.1180_1181insA
1 paper
NM_024426.6
p.R394S
c.1180C>A
4 papers
NM_024426.6
p.R394L
c.1181G>T
1 paper
NM_024426.6
p.E392_R394ins1
c.1175_1180dup6
6 papers
NM_024426.6
p.R394P
c.1181G>C
6 papers
NM_024426.6
p.R394H
c.1181G>A
1 paper
NM_024426.6
p.K393_R394del1
c.1178_1180delGTT
1 paper
NM_024426.6
p.K393fs
c.1177_1178fs
1 paper
NM_000378.6
p.R377_P378insFs
c.1131_1132insT
1 paper
NM_024426.6
p.R394fs
c.1180_1181fs
1 paper
NM_024426.6
p.E392delFs
c.1176delC
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