Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.R292_L296Fs

TULP1

308 papers

RefSeq Summary

This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal regi...

Pfam Domains

Tubaa 295–537UCSCTub family

Gene Aliases

HGNC Name

TUB like protein 1

HGNC Previous Symbol

RP14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003322.6
p.R292_L296Fs
c.875_888delinsTTTFs
Surrounding Variants
1 paper
NM_003322.6
p.V295delFs
c.885delC
1 paper
NM_003322.6
p.V286_R297del12
c.856_890del36
1 paper
NM_003322.6
p.Q301fs
c.901_902fs
28 papers
NM_003322.6
p.Q301*
c.901C>T
1 paper
NM_003322.6
p.Q301E
c.901C>G
1 paper
NM_003322.6
p.R292W
c.874C>T
1 paper
NM_003322.6
p.Q301R
c.902A>G
2 papers
NM_003322.6
p.Q301delFs
c.901delG
2 papers
NM_003322.6
p.Q301fs
c.901_902fs
1 paper
NM_003322.6
p.G302A
c.905G>C
1 paper
NM_003322.6
p.G302insFs
c.904_905insG
1 paper
NM_003322.6
p.G302_R303delFs
c.906_907delGG
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