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.T400M

c.1199C>T

Surrounding Variants

1 paper

NM_133644.4

p.L431insFs

c.1291dupC

1 paper

NM_133644.4

p.C430Y

c.1289G>A

1 paper

NM_032620.4

p.A410insFs

c.1228dupG

1 paper

NM_032620.4

p.A410T

c.1228G>A

1 paper

NM_032620.4

p.D389N

c.1165G>A

1 paper

NM_032620.4

p.L378P

c.1133T>C

1 paper

NM_032620.4

p.S376L

c.1127C>T

1 paper

NM_032620.4

p.L371P

c.1112T>C

3 papers

NM_032620.4

p.R368fs

c.1102_1103fs

3 papers

NM_032620.4

p.R368insFs

c.1102dupC

2 papers

NM_032620.4

p.Q367H

c.1101G>T

1 paper

NM_032620.4

p.D364_R368del0

c.1092_1103del12