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.E289*

c.865G>T

Surrounding Variants

1 paper

NM_032620.4

p.T283N

c.848C>A

1 paper

NM_032620.4

p.T283fs

c.847_848fs

1 paper

NM_032620.4

p.G282delFs

c.844delG

3 papers

NM_032620.4

p.P279L

c.836C>T

NM_133644.4

p.P311L

c.932C>T

1 paper

NM_133644.4

p.E312_V319del0

c.934_957del24

1 paper

NM_032620.4

p.V274M

c.820G>A

1 paper

NM_032620.4

p.P273S

c.817C>T

1 paper

NM_133644.4

p.A337P

c.1009G>C

2 papers

NM_032620.4

p.K272E

c.814A>G

1 paper

NM_032620.4

p.S270fs

c.808_809fs

1 paper

NM_032620.4

p.E309insFs

c.925dupG

1 paper

NM_032620.4

p.R308_Q316delFs

c.923_947del25