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

9 papers

NM_182977.3

p.L977P

c.2930T>C

Surrounding Variants

1 paper

NM_182977.3

p.R968Q

c.2903G>A

1 paper

NM_182977.3

p.R968*

c.2902C>T

2 papers

NM_182977.3

p.G967D

c.2900G>A

NM_001331026.2

p.G836D

c.2507G>A

5 papers

NM_182977.3

p.I993V

c.2977A>G

3 papers

NM_182977.3

p.D999fs

c.2995_2996fs

1 paper

NM_182977.3

p.T1000_D1001insFs

c.3000_3001dupTG

1 paper

NM_182977.3

p.D1001fs

c.3001_3002fs

2 papers

NM_182977.3

p.D1001fs

c.3001_3002fs

9 papers

NM_182977.3

p.A1008P

c.3022G>C

10 papers

NM_182977.3

p.N1009K

c.3027T>A

10 papers

NM_182977.3

p.N1009K

c.3027T>G

1 paper

NM_182977.3

p.D1019Y

c.3055G>T