Varaico: Literature-Extracted Genetic Variants

Gene:NIPSNAP2
Variant:p.R57T

NIPSNAP2

23 papers

RefSeq Summary

This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation...

Pfam Domains

NIPSNAPaa 187–284UCSCNIPSNAP

Gene Aliases

HGNC Name

nipsnap homolog 2

HGNC Previous Symbol

GBAS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001483.3
p.R57T
c.170G>C
Surrounding Variants
1 paper
NM_001483.3
p.N63_A66delFs
c.189_198del10
1 paper
NM_001483.3
p.L46P
c.137T>C
1 paper
NM_001483.3
p.E69K
c.205G>A
1 paper
NM_001483.3
p.N72Y
c.214A>T
1 paper
NM_001483.3
p.F78L
c.232T>C
1 paper
NM_001483.3
p.F78L
c.234T>A
1 paper
NM_001483.3
p.F78L
c.234T>G
1 paper
NM_001483.3
p.R31Splc
c.93-51T>C
1 paper
NM_001483.3
p.E95K
c.283G>A
1 paper
NM_001483.3
p.P107L
c.320C>T
1 paper
NM_001483.3
p.E120*
c.358G>T
1 paper
NM_001483.3
p.N142S
c.425A>G
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