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.D1001fs

c.3001_3002fs

Surrounding Variants

1 paper

NM_182977.3

p.D1001fs

c.3001_3002fs

1 paper

NM_182977.3

p.T1000_D1001insFs

c.3000_3001dupTG

3 papers

NM_182977.3

p.D999fs

c.2995_2996fs

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

1 paper

NM_182977.3

p.P1020L

c.3059C>T

1 paper

NM_182977.3

p.I1023F

c.3067A>T

1 paper

NM_182977.3

p.F1057F

c.3171C>T

1 paper

NM_182977.3

p.A1078E

c.3233C>A

5 papers

NM_182977.3

p.R1081R

c.3243A>G