Varaico: Literature-Extracted Genetic Variants

GTPBP3

102 papers

RefSeq Summary

This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated wit...

Pfam Domains

TrmE_Naa 35–152UCSCGTP-binding protein TrmE N-terminus

MnmE_helicalaa 155–489UCSCMnmE helical domain

MMR_HSR1aa 251–375UCSC50S ribosome-binding GTPase

Gene Aliases

HGNC Name

GTP binding protein 3, mitochondrial

HGNC Alias Symbols

MSS1; THDF1; GTPBG3; MTGP1; FLJ14700

Papers

RefSeq ID

Protein change

DNA change

1–12 of 146 variants

12 papers

NM_032620.4

p.R3L

c.8G>T

8 papers

NM_032620.4

p.A138V

c.413C>T

8 papers

NM_032620.4

p.E142K

c.424G>A

8 papers

NM_032620.4

p.A162P

c.484G>C

8 papers

NM_032620.4

p.E170delFs

c.509_510delAG

7 papers

NM_032620.4

p.Q11fs

c.31_32fs

7 papers

NM_032620.4

p.Q11Fs

c.32_33delinsGTGFs

7 papers

NM_032620.4

p.E159V

c.476A>T

7 papers

NM_032620.4

p.A222G

c.665C>G

7 papers

NM_032620.4

p.E225K

c.673G>A

7 papers

NM_032620.4

p.A322P

c.964G>C

7 papers

NM_032620.4

p.D337H

c.1009G>C