Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D19
Variant:p.R396H

TBC1D19

25 papers

Pfam Domains

RabGAP-TBCaa 363–493UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 19

HGNC Alias Symbol

FLJ11082

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018317.4
p.R396H
c.1187G>A
Surrounding Variants
1 paper
NM_018317.4
p.Y387C
c.1160A>G
1 paper
NM_018317.4
p.L376L
c.1128T>G
1 paper
NM_018317.4
p.L416M
c.1246C>A
1 paper
NM_018317.4
p.R434*
c.1300C>T
1 paper
NM_018317.4
p.P440S
c.1318C>T
1 paper
NM_018317.4
p.R442C
c.1324C>T
1 paper
NM_018317.4
p.E475D
c.1425A>C
1 paper
NM_018317.4
p.E475D
c.1425A>T
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