Varaico: Literature-Extracted Genetic Variants

Gene:RHOT1
Variant:p.R450C

RHOT1

84 papers

Pfam Domains

Rasaa 1–147UCSCRas family
Rasaa 6–168UCSCRas family
Rasaa 6–168UCSCRas family
EF_assoc_2aa 219–305UCSCEF hand associated
EF_assoc_2aa 219–305UCSCEF hand associated
EF_assoc_1aa 341–413UCSCEF hand associated

Gene Aliases

HGNC Name

ras homolog family member T1

HGNC Previous Symbol

ARHT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001033566.3
p.R450C
c.1348C>T
Surrounding Variants
1 paper
NM_001033566.3
p.L439fs
c.1315_1316fs
1 paper
NM_001033566.3
p.L438insFs
c.1313_1314insA
1 paper
NM_001033566.3
p.A437fs
c.1309_1310fs
1 paper
NM_001033566.3
p.A437delFs
c.1310delC
1 paper
NM_001033566.3
p.R403delFs
c.1209delA
1 paper
NM_001033566.3
p.Y380F
c.1139A>T
1 paper
NM_001033566.3
p.T367Splc
c.1101-2A>G
1 paper
NM_001033566.3
p.T367Splc
c.1101-5C>T
1 paper
NM_001033566.3
p.L473W
c.1418T>G
1 paper
NM_001033566.3
p.S479L
c.1436C>T
1 paper
NM_001033566.3
p.E486E
c.1458A>G
1 paper
NM_001033566.3
p.R509K
c.1526G>A
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