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.I364V

c.1090A>G

Surrounding Variants

8 papers

NM_182977.3

p.H365P

c.1094A>C

1 paper

NM_182977.3

p.G360fs

c.1078_1079fs

1 paper

NM_182977.3

p.T357I

c.1070C>T

8 papers

NM_182977.3

p.T357A

c.1069A>G

1 paper

NM_182977.3

p.T356I

c.1067C>T

1 paper

NM_182977.3

p.E355K

c.1063G>A

1 paper

NM_182977.3

p.E349K

c.1045G>A

1 paper

NM_001331026.2

p.L215S

c.644T>C

3 papers

NM_182977.3

p.V342A

c.1025T>C

2 papers

NM_182977.3

p.M337V

c.1009A>G

1 paper

NM_182977.3

p.N330S

c.989A>G

1 paper

NM_182977.3

p.N330_V342del13

c.988_1025del39