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

5 papers

NM_001002755.4

p.M1K

c.2T>A

Surrounding Variants

1 paper

NM_001002755.4

p.M1I

c.3G>T

1 paper

NM_001002755.4

p.M1I

c.3G>C

1 paper

NM_001002755.4

p.M1I

c.3G>A

1 paper

NM_001002755.4

p.M1L

c.1A>T

1 paper

NM_001002755.4

p.M1V

c.1A>G

1 paper

NM_001002755.4

p.M1L

c.1A>C

1 paper

NM_001002755.4

p.L18fs

c.52_53fs

1 paper

NM_001002755.4

p.G17insFs

c.51dupG

2 papers

NM_001002755.4

p.R21P

c.62G>C

1 paper

NM_001002755.4

p.R21Splc

c.62+89G>A

4 papers

NM_001002755.4

p.R21P

c.62G>C

8 papers

NM_001002755.4

p.M25K

c.74T>A