Varaico: Literature-Extracted Genetic Variants

Gene:FNBP4
Variant:p.P20delFs

FNBP4

60 papers

RefSeq Summary

This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskelet...

Pfam Domains

WWaa 218–246UCSCWW domain
WWaa 597–627UCSCWW domain

Gene Aliases

HGNC Name

formin binding protein 4

HGNC Alias Symbol

KIAA1014

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015308.5
p.P20delFs
c.58_59delGG
Surrounding Variants
1 paper
NM_015308.5
p.G21fs
c.61_62fs
1 paper
NM_015308.5
p.P20del1
c.58_60delCGG
1 paper
NM_015308.5
p.G21V
c.62G>T
1 paper
NM_015308.5
p.G21delFs
c.62delC
1 paper
NM_015308.5
p.Q16*
c.46C>T
1 paper
NM_015308.5
p.D30H
c.88G>C
3 papers
NM_015308.5
p.T58_T59del2
c.172_176del6
1 paper
NM_015308.5
p.T58_A60del0
c.174_179del6
1 paper
NM_015308.5
p.T58_A60del3
c.172_179del9
1 paper
NM_015308.5
p.P92_V93delFs
c.275_279del5
1 paper
NM_015308.5
p.T95S
c.283A>T
1 paper
NM_015308.5
p.T95S
c.284C>G
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