Varaico: Literature-Extracted Genetic Variants

Gene:GATB
Variant:p.S194fs

GATB

46 papers

Pfam Domains

GatB_Naa 65–353UCSCGatB/GatE catalytic domain
GatB_Yqeyaa 406–555UCSCGatB domain

Gene Aliases

HGNC Name

glutamyl-tRNA amidotransferase subunit B

HGNC Previous Symbols

PET112L; PET112

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004564.3
p.S194fs
c.580_581fs
Surrounding Variants
1 paper
NM_004564.3
p.S194delFs
c.580_581delCT
1 paper
NM_004564.3
p.D200H
c.598G>C
1 paper
NM_004564.3
p.S176R
c.528T>G
1 paper
NM_004564.3
p.S176R
c.528T>A
1 paper
NM_004564.3
p.S176R
c.526A>C
1 paper
NM_004564.3
p.T153fs
c.457_458fs
1 paper
NM_004564.3
p.G149S
c.445G>A
1 paper
NM_004564.3
p.L218_E219delFs
c.654_655delCC
3 papers
NM_004564.3
p.A232V
c.695C>T
4 papers
NM_004564.3
p.F136L
c.408T>G
4 papers
NM_004564.3
p.F136L
c.408T>A
4 papers
NM_004564.3
p.F136L
c.406T>C
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