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.C213*

c.639C>A

Surrounding Variants

1 paper

NM_001002755.4

p.C213S

c.638G>C

1 paper

NM_001002755.4

p.C213S

c.637T>A

1 paper

NM_001002755.4

p.S215R

c.645T>A

1 paper

NM_001002755.4

p.C210*

c.630T>A

9 papers

NM_001002755.4

p.C210F

c.629G>T

1 paper

NM_001002755.4

p.C210S

c.629G>C

1 paper

NM_001002755.4

p.C210S

c.628T>A

1 paper

NM_001002755.4

p.G208A

c.623G>C

40 papers

NM_001002755.4

p.G208C

c.622G>T

1 paper

NM_001002755.4

p.G208S

c.622G>A

1 paper

NM_015700.4

p.L182F

c.544C>T

1 paper

NM_001002755.4

p.N226D

c.676A>G