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.V511M

c.1531G>A

Surrounding Variants

1 paper

NM_182977.3

p.V511V

c.1533G>T

1 paper

NM_182977.3

p.G509S

c.1525G>A

1 paper

NM_182977.3

p.V516I

c.1546G>A

1 paper

NM_182977.3

p.A522T

c.1564G>A

2 papers

NM_182977.3

p.S525insFs

c.1575dupA

2 papers

NM_182977.3

p.L496V

c.1486C>G

1 paper

NM_182977.3

p.L496L

c.1486C>T

1 paper

NM_182977.3

p.P526fs

c.1576_1577fs

1 paper

NM_182977.3

p.G490S

c.1468G>A

1 paper

NM_182977.3

p.G490R

c.1468G>C

10 papers

NM_182977.3

p.A533V

c.1598C>T

1 paper

NM_182977.3

p.I486M

c.1458A>G