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

7 papers

NM_032620.4

p.Q11Fs

c.32_33delinsGTGFs

Surrounding Variants

7 papers

NM_032620.4

p.Q11fs

c.31_32fs

1 paper

NM_032620.4

p.A12S

c.34G>T

1 paper

NM_032620.4

p.W6*

c.18G>A

1 paper

NM_032620.4

p.P16H

c.47C>A

1 paper

NM_032620.4

p.W6*

c.17G>A

1 paper

NM_032620.4

p.G4G

c.12G>C

12 papers

NM_032620.4

p.R3L

c.8G>T

1 paper

NM_032620.4

p.M1K

c.2T>A

1 paper

NM_032620.4

p.A29A

c.87C>T

1 paper

NM_032620.4

p.P30P

c.90C>T

2 papers

NM_032620.4

p.Q43*

c.127C>T

1 paper

NM_032620.4

p.G44delFs

c.130delG