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

1–12 of 118 variants

40 papers

NM_001002755.4

p.G208C

c.622G>T

20 papers

NM_001002755.4

p.R182Q

c.545G>A

16 papers

NM_001002755.4

p.G189R

c.565G>C

16 papers

NM_001002755.4

p.G189R

c.565G>A

15 papers

NM_001002755.4

p.R182Q

c.545G>A

11 papers

NM_001002755.4

p.R182Splc

c.545+5G>A

9 papers

NM_001002755.4

p.C210F

c.629G>T

8 papers

NM_001002755.4

p.M25K

c.74T>A

7 papers

NM_001002755.4

p.R182W

c.544C>T

6 papers

NM_001002755.4

p.R182W

c.544C>T

5 papers

NM_001002755.4

p.M1K

c.2T>A

5 papers

NM_001002755.4

p.P49delFs

c.146delG