Varaico: Literature-Extracted Genetic Variants

NNT

190 papers

RefSeq Summary

This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membran...

Pfam Domains

AlaDh_PNT_Naa 2–68UCSCAlanine dehydrogenase/PNT, N-terminal domain

AlaDh_PNT_Naa 60–199UCSCAlanine dehydrogenase/PNT, N-terminal domain

AlaDh_PNT_Caa 203–437UCSCAlanine dehydrogenase/PNT, C-terminal domain

PNTB_4TMaa 501–587UCSC4TM region of pyridine nucleotide transhydrogenase, mitoch

PNTBaa 620–1079UCSCNAD(P) transhydrogenase beta subunit

Gene Aliases

HGNC Name

nicotinamide nucleotide transhydrogenase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_182977.3

p.Q218*

c.652C>T

NM_001331026.2

p.Q87*

c.259C>T

Surrounding Variants

1 paper

NM_182977.3

p.Q218delFs

c.653delA

1 paper

NM_182977.3

p.G217A

c.650G>C

1 paper

NM_182977.3

p.T216I

c.647C>T

9 papers

NM_182977.3

p.F215S

c.644T>C

1 paper

NM_182977.3

p.R213H

c.638G>A

3 papers

NM_182977.3

p.R213insFs

c.638_639insT

1 paper

NM_182977.3

p.R213fs

c.637_638fs

1 paper

NM_182977.3

p.P226insFs

c.677_678insA

1 paper

NM_182977.3

p.P227delFs

c.680delC

1 paper

NM_182977.3

p.P227fs

c.679_680fs

5 papers

NM_182977.3

p.Y201fs

c.601_602fs

2 papers

NM_182977.3

p.G200Splc

c.599+2T>C