Varaico: Literature-Extracted Genetic Variants

Gene:PFDN6
Variant:p.K88N

PFDN6

8 papers

RefSeq Summary

PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their tr...

Pfam Domains

Prefoldin_2aa 10–115UCSCPrefoldin subunit

Gene Aliases

HGNC Name

prefoldin subunit 6

HGNC Previous Symbol

HKE2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001185181.3
p.K88N
c.264G>C
Surrounding Variants
1 paper
NM_001185181.3
p.K88N
c.264G>T
1 paper
NM_001185181.3
p.Q112H
c.336G>C
1 paper
NM_001185181.3
p.Q112H
c.336G>T
1 paper
NM_001185181.3
p.G52E
c.155G>A
1 paper
NM_001185181.3
p.S28L
c.83C>T
1 paper
NM_001185181.3
p.K8del1
c.22_24delAAG
1 paper
NM_001185181.3
p.M1I
c.3G>A
1 paper
NM_001185181.3
p.M1I
c.3G>C
1 paper
NM_001185181.3
p.M1I
c.3G>T
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