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.G647D

c.1940G>A

Surrounding Variants

1 paper

NM_182977.3

p.M652T

c.1955T>C

1 paper

NM_182977.3

p.G642*

c.1924G>T

2 papers

NM_182977.3

p.L638_S639insT

c.1912_1916ins3

5 papers

NM_182977.3

p.L663F

c.1987C>T

2 papers

NM_182977.3

p.G664_G669delFs

c.1992_2005del14

12 papers

NM_182977.3

p.G664R

c.1990G>A

11 papers

NM_182977.3

p.G664R

c.1990G>C

3 papers

NM_182977.3

p.V665fs

c.1993_1994fs

1 paper

NM_182977.3

p.S627L

c.1880C>T

1 paper

NM_182977.3

p.L625Q

c.1874T>A

5 papers

NM_182977.3

p.I622fs

c.1864_1865fs

5 papers

NM_182977.3

p.Q621_I622Splc

c.1864-1G>T