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

6 papers

NM_001002755.4

p.R182W

c.544C>T

Surrounding Variants

17 papers

NM_001002755.4

p.R182Q

c.545G>A

NM_015700.4

p.R158Q

c.473G>A

12 papers

NM_015700.4

p.R158Splc

c.473+5G>A

NM_001002755.4

p.R182Splc

c.545+5G>A

1 paper

NM_001002755.4

p.E168G

c.503A>G

1 paper

NM_001002756.2

p.G21A

c.62G>C

7 papers

NM_001002755.4

p.R182W

c.544C>T

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