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

2 papers

NM_032620.4

p.P119fs

c.355_356fs

Surrounding Variants

2 papers

NM_032620.4

p.P119delFs

c.356delC

1 paper

NM_032620.4

p.E108D

c.324G>C

1 paper

NM_032620.4

p.E108D

c.324G>T

1 paper

NM_032620.4

p.S104_F105delFs

c.312_315del4

1 paper

NM_032620.4

p.R136*

c.406C>T

1 paper

NM_032620.4

p.A138E

c.413C>A

8 papers

NM_032620.4

p.A138V

c.413C>T

8 papers

NM_032620.4

p.E142K

c.424G>A

1 paper

NM_032620.4

p.A147V

c.440C>T

1 paper

NM_032620.4

p.L91Q

c.272T>A

1 paper

NM_032620.4

p.L155R

c.464T>G

1 paper

NM_032620.4

p.V158G

c.473T>G