Varaico: Literature-Extracted Genetic Variants

Gene:NUDCD3
Variant:p.R80fs

NUDCD3

26 papers

RefSeq Summary

The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocali...

Pfam Domains

Nudc_Naa 8–67UCSCN-terminal conserved domain of Nudc.
CSaa 188–267UCSCCS domain

Gene Aliases

HGNC Name

NudC domain containing 3

HGNC Alias Symbols

KIAA1068; NudCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015332.4
p.R80fs
c.238_239fs
Surrounding Variants
1 paper
NM_015332.4
p.R80_R81delFs
c.238_242del5
1 paper
NM_015332.4
p.E92V
c.275A>T
1 paper
NM_015332.4
p.E92E
c.276A>G
1 paper
NM_015332.4
p.Q64_V65Splc
c.193-1G>A
1 paper
NM_015332.4
p.K97N
c.291G>T
1 paper
NM_015332.4
p.K97N
c.291G>C
1 paper
NM_015332.4
p.G145G
c.435T>C
1 paper
NM_015332.4
p.G52D
c.155G>A
1 paper
NM_015332.4
p.M51L
c.151A>T
1 paper
NM_015332.4
p.M51L
c.151A>C
1 paper
NM_015332.4
p.P47fs
c.139_140fs
1 paper
NM_015332.4
p.R42P
c.125G>C
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