Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP6
Variant:p.R272G

GTPBP6

14 papers

RefSeq Summary

This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011].

Pfam Domains

GTP-bdg_Naa 118–209UCSCGTP-binding GTPase N-terminal
GTP-bdg_Maa 211–289UCSCGTP-binding GTPase Middle Region
MMR_HSR1aa 296–417UCSC50S ribosome-binding GTPase

Gene Aliases

HGNC Name

GTP binding protein 6

HGNC Alias Symbols

PGPL; FLJ20977

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012227.4
p.R272G
c.814A>G
Surrounding Variants
1 paper
NM_012227.4
p.R286C
c.856C>T
1 paper
NM_012227.4
p.S375_D376Splc
c.1125+6C>T
1 paper
NM_012227.4
p.D199A
c.596A>C
3 papers
NM_012227.4
p.M181L
c.541A>T
3 papers
NM_012227.4
p.M181L
c.541A>C
1 paper
NM_012227.4
p.I171V
c.511A>G
1 paper
NM_012227.4
p.P147delFs
c.439delG
1 paper
NM_012227.4
p.S437P
c.1309T>C
1 paper
NM_012227.4
p.R116P
c.347G>C
1 paper
NM_012227.4
p.L91Q
c.272T>A
1 paper
NM_012227.4
p.A80V
c.239C>T
2 papers
NM_012227.4
p.G61R
c.181G>C
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