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

3 papers

NM_032620.4

p.V354L

c.1060G>C

Surrounding Variants

1 paper

NM_032620.4

p.G358delFs

c.1073delG

1 paper

NM_032620.4

p.V357V

c.1071G>T

1 paper

NM_032620.4

p.L350delFs

c.1049delT

1 paper

NM_032620.4

p.L350fs

c.1048_1049fs

1 paper

NM_032620.4

p.G358fs

c.1072_1073fs

1 paper

NM_032620.4

p.C347Y

c.1040G>A

1 paper

NM_032620.4

p.D364_R368del0

c.1092_1103del12

2 papers

NM_032620.4

p.P344delFs

c.1032delC

1 paper

NM_032620.4

p.P344_A351del0

c.1030_1053del24

3 papers

NM_032620.4

p.R368insFs

c.1102dupC

2 papers

NM_032620.4

p.Q367H

c.1101G>T

3 papers

NM_032620.4

p.R368fs

c.1102_1103fs