Varaico: Literature-Extracted Genetic Variants

FDXACB1

33 papers

RefSeq Summary

This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcri...

Pfam Domains

BMT5-likeaa 7–176UCSCrRNA (uridine-N3-)-methyltransferase BTM5-like

FDX-ACBaa 530–624UCSCFerredoxin-fold anticodon binding domain

Gene Aliases

HGNC Name

ferredoxin-fold anticodon binding domain containing 1

HGNC Alias Symbols

LOC91893; hCG_2033039

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

3 papers

NM_138378.3

p.L494S

c.1481T>C

2 papers

NM_138378.3

p.I87N

c.260T>A

2 papers

NM_138378.3

p.L156fs

c.466_467fs

2 papers

NM_138378.3

p.D596G

c.1787A>G

1 paper

NM_138378.3

p.P3L

c.8C>T

1 paper

NM_138378.3

p.T28S

c.82A>T

1 paper

NM_138378.3

p.T28S

c.83C>G

1 paper

NM_138378.3

p.L35H

c.104T>A

1 paper

NM_138378.3

p.V114I

c.340G>A

1 paper

NM_138378.3

p.G155insFs

c.465dupG

1 paper

NM_138378.3

p.D160N

c.478G>A

1 paper

NM_138378.3

p.R178K

c.533G>A