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

Selected Variant

1 paper

NM_032620.4

p.N259fs

c.775_776fs

Surrounding Variants

3 papers

NM_032620.4

p.N259S

c.776A>G

1 paper

NM_133644.4

p.N291I

c.872A>T

6 papers

NM_032620.4

p.P257H

c.770C>A

1 paper

NM_032620.4

p.P258_N259insFs

c.774_775insC

5 papers

NM_032620.4

p.K262T

c.785A>C

1 paper

NM_032620.4

p.V253A

c.758T>C

1 paper

NM_032620.4

p.V252I

c.754G>A

3 papers

NM_032620.4

p.V250A

c.749T>C

1 paper

NM_032620.4

p.V250fs

c.748_749fs

1 paper

NM_032620.4

p.G249A

c.746G>C

1 paper

NM_032620.4

p.V250delFs

c.748delG

1 paper

NM_032620.4

p.A232V

c.695C>T