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.Y30*

c.90C>G

Surrounding Variants

1 paper

NM_001002755.4

p.Y30*

c.90C>A

1 paper

NM_001002755.4

p.Y30delFs

c.90delG

1 paper

NM_001002755.4

p.P29T

c.85C>A

1 paper

NM_001002755.4

p.N28insFs

c.82_83ins8

1 paper

NM_001002755.4

p.K34N

c.102A>T

1 paper

NM_001002755.4

p.K34N

c.102A>C

8 papers

NM_001002755.4

p.M25K

c.74T>A

1 paper

NM_001002755.4

p.P36T

c.106C>A

4 papers

NM_001002755.4

p.R21P

c.62G>C

1 paper

NM_001002755.4

p.L48R

c.143T>G

2 papers

NM_001002755.4

p.P49fs

c.145_146fs

5 papers

NM_001002755.4

p.P49delFs

c.146delG