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

1–12 of 266 variants

12 papers

NM_182977.3

p.G664R

c.1990G>A

12 papers

NM_182977.3

p.G862D

c.2585G>A

11 papers

NM_182977.3

p.G664R

c.1990G>C

11 papers

NM_182977.3

p.G678R

c.2032G>A

11 papers

NM_182977.3

p.G678R

c.2032G>C

10 papers

NM_182977.3

p.A533V

c.1598C>T

10 papers

NM_182977.3

p.N1009K

c.3027T>A

10 papers

NM_182977.3

p.N1009K

c.3027T>G

9 papers

NM_182977.3

p.F215S

c.644T>C

9 papers

NM_182977.3

p.L977P

c.2930T>C

9 papers

NM_182977.3

p.A1008P

c.3022G>C

8 papers

NM_182977.3

p.T357A

c.1069A>G