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

1 paper

NM_001002755.4

p.N226D

c.676A>G

Surrounding Variants

1 paper

NM_001002755.4

p.M227I

c.681G>T

1 paper

NM_001002755.4

p.M227I

c.681G>C

1 paper

NM_001002755.4

p.M227I

c.681G>A

1 paper

NM_001002755.4

p.Q225_Q229del5

c.673_686del15

1 paper

NM_001002755.4

p.Y231C

c.692A>G

1 paper

NM_001002755.4

p.P233S

c.697C>T

1 paper

NM_001002755.4

p.E234G

c.701A>G

1 paper

NM_001002755.4

p.E234A

c.701A>C

1 paper

NM_001002755.4

p.S215R

c.645T>A

1 paper

NM_001002755.4

p.V238I

c.712G>A

1 paper

NM_001002755.4

p.C213*

c.639C>A

1 paper

NM_001002755.4

p.C213S

c.638G>C