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.A61P

c.181G>C

Surrounding Variants

3 papers

NM_032620.4

p.R63*

c.187C>T

1 paper

NM_032620.4

p.T66T

c.198A>C

1 paper

NM_032620.4

p.R52Q

c.155G>A

1 paper

NM_032620.4

p.P72L

c.215C>T

1 paper

NM_032620.4

p.C46G

c.136T>G

1 paper

NM_032620.4

p.A77V

c.230C>T

1 paper

NM_032620.4

p.G44delFs

c.130delG

2 papers

NM_032620.4

p.Q43*

c.127C>T

1 paper

NM_032620.4

p.P85S

c.253C>T

1 paper

NM_032620.4

p.P30P

c.90C>T

1 paper

NM_032620.4

p.L91Q

c.272T>A

1 paper

NM_032620.4

p.A29A

c.87C>T