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

1 paper

NM_182977.3

p.N856I

c.2567A>T

Surrounding Variants

1 paper

NM_182977.3

p.N856K

c.2568T>A

1 paper

NM_182977.3

p.N856K

c.2568T>G

1 paper

NM_182977.3

p.L857V

c.2569C>G

1 paper

NM_182977.3

p.V861M

c.2581G>A

12 papers

NM_182977.3

p.G862D

c.2585G>A

2 papers

NM_182977.3

p.A863E

c.2588C>A

1 paper

NM_182977.3

p.G866D

c.2597G>A

1 paper

NM_182977.3

p.S867S

c.2601G>C

1 paper

NM_182977.3

p.V834I

c.2500G>A

1 paper

NM_182977.3

p.V834_W844del11

c.2500_2531del33

2 papers

NM_182977.3

p.P832P

c.2496C>G

1 paper

NM_182977.3

p.D830_M831insFs

c.2490_2491insT