Varaico: Literature-Extracted Genetic Variants

NFU1

105 papers

RefSeq Summary

This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoprot...

Pfam Domains

Nfu_Naa 61–148UCSCScaffold protein Nfu/NifU N terminal

NifUaa 173–239UCSCNifU-like domain

Gene Aliases

HGNC Name

NFU1 iron-sulfur cluster scaffold

HGNC Previous Symbol

HIRIP5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001002755.4

p.R182W

c.544C>T

Surrounding Variants

22 papers

NM_001002755.4

p.R182Q

c.545G>A

NM_015700.4

p.R158Q

c.473G>A

1 paper

NM_001002755.4

p.P183fs

c.547_548fs

1 paper

NM_001002755.4

p.P183R

c.548C>G

1 paper

NM_001002755.4

p.G189*

c.565G>T

16 papers

NM_001002755.4

p.G189R

c.565G>C

16 papers

NM_001002755.4

p.G189R

c.565G>A

1 paper

NM_001002755.4

p.G189A

c.566G>C

5 papers

NM_001002755.4

p.G190R

c.568G>C

5 papers

NM_001002755.4

p.G190R

c.568G>A

1 paper

NM_001002755.4

p.D191V

c.572A>T

1 paper

NM_001002755.4

p.G196C

c.586G>T

1 paper

NM_001002755.4

p.G196insFs

c.588dupC