Varaico: Literature-Extracted Genetic Variants

Gene:FNBP4
Variant:p.N830K

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
2 papers
NM_015308.5
p.N830K
c.2490C>G
Surrounding Variants
2 papers
NM_015308.5
p.N830K
c.2490C>A
1 paper
NM_015308.5
p.A825_G836del12
c.2473_2507del36
1 paper
NM_015308.5
p.Q852H
c.2556G>T
1 paper
NM_015308.5
p.Q852H
c.2556G>C
1 paper
NM_015308.5
p.M872R
c.2615T>G
1 paper
NM_015308.5
p.M872T
c.2615T>C
1 paper
NM_015308.5
p.P908P
c.2724A>T
1 paper
NM_015308.5
p.P915_P916ins1
c.2745_2746insTCC
1 paper
NM_015308.5
p.P918del1
c.2752_2753delTGG
1 paper
NM_015308.5
p.I819V
c.2455A>G
1 paper
NM_015308.5
p.Q816R
c.2447A>G
1 paper
NM_015308.5
p.S810C
c.2429C>G
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