Varaico: Literature-Extracted Genetic Variants

Gene:FNBP4
Variant:p.Q816R

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
1 paper
NM_015308.5
p.Q816R
c.2447A>G
Surrounding Variants
1 paper
NM_015308.5
p.I819V
c.2455A>G
1 paper
NM_015308.5
p.S810C
c.2429C>G
2 papers
NM_015308.5
p.T794A
c.2380A>G
1 paper
NM_015308.5
p.S783C
c.2348C>G
1 paper
NM_015308.5
p.V770I
c.2308G>A
1 paper
NM_015308.5
p.E743K
c.2227G>A
1 paper
NM_015308.5
p.V740V
c.2220A>G
1 paper
NM_015308.5
p.Q738R
c.2213A>G
1 paper
NM_015308.5
p.P724H
c.2171C>A
2 papers
NM_015308.5
p.N830K
c.2490C>G
2 papers
NM_015308.5
p.N830K
c.2490C>A
1 paper
NM_015308.5
p.A825_G836del12
c.2473_2507del36
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