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

Selected Variant

1 paper

NM_138378.3

p.G155insFs

c.465dupG

Surrounding Variants

2 papers

NM_138378.3

p.L156fs

c.466_467fs

1 paper

NM_138378.3

p.D160N

c.478G>A

1 paper

NM_138378.3

p.V114I

c.340G>A

1 paper

NM_138378.3

p.R178K

c.533G>A

1 paper

NM_138378.3

p.P199S

c.595C>T

1 paper

NM_138378.3

p.P258L

c.773C>T

1 paper

NM_138378.3

p.Y266S

c.797A>C

1 paper

NM_138378.3

p.Q342*

c.1024C>T

1 paper

NM_138378.3

p.A343V

c.1028C>T

1 paper

NM_138378.3

p.H370R

c.1109A>G

1 paper

NM_138378.3

p.L403M

c.1207C>A

1 paper

NM_138378.3

p.G445E

c.1334G>A