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

8 papers

NM_032620.4

p.A162P

c.484G>C

Surrounding Variants

7 papers

NM_032620.4

p.E159V

c.476A>T

1 paper

NM_032620.4

p.V158G

c.473T>G

1 paper

NM_032620.4

p.E168K

c.502G>A

1 paper

NM_032620.4

p.L155R

c.464T>G

8 papers

NM_032620.4

p.E170delFs

c.509_510delAG

5 papers

NM_032620.4

p.E170fs

c.508_509fs

1 paper

NM_032620.4

p.A171delFs

c.512delC

1 paper

NM_032620.4

p.A171fs

c.511_512fs

1 paper

NM_032620.4

p.R173W

c.517C>T

2 papers

NM_032620.4

p.R174_A176delFs

c.521_527del7

1 paper

NM_032620.4

p.R174fs

c.520_521fs

1 paper

NM_032620.4

p.R174fs

c.520_521fs