Varaico: Literature-Extracted Genetic Variants

Gene:NUBPL
Variant:p.G56R

NUBPL

120 papers

RefSeq Summary

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymat...

Pfam Domains

ParAaa 65–311UCSCNUBPL iron-transfer P-loop NTPase

Gene Aliases

HGNC Name

NUBP iron-sulfur cluster assembly factor, mitochondrial

HGNC Previous Symbol

C14orf127

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
21 papers
NM_025152.3
p.G56R
c.166G>C
Surrounding Variants
26 papers
NM_025152.3
p.G56R
c.166G>A
1 paper
NM_025152.3
p.P58A
c.172C>G
1 paper
NM_025152.3
p.K59R
c.176A>G
1 paper
NM_025152.3
p.T50A
c.148A>G
1 paper
NM_025152.3
p.R49fs
c.145_146fs
1 paper
NM_025152.3
p.I63T
c.188T>C
1 paper
NM_025152.3
p.R49_Q51delFs
c.146_153del8
1 paper
NM_025152.3
p.G65A
c.194G>C
3 papers
NM_025152.3
p.V69delFs
c.205_206delGT
3 papers
NM_025152.3
p.V69fs
c.205_206fs
1 paper
NM_025152.3
p.A73D
c.218C>A
1 paper
NM_025152.3
p.A73_S74delFs
c.219_222del4
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