Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.P282delFs

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.P282delFs
c.845delG
Surrounding Variants
1 paper
NM_003322.6
p.P282L
c.845C>T
1 paper
NM_003322.6
p.A281D
c.842C>A
1 paper
NM_003322.6
p.P284_P285insFs
c.852_853ins4
1 paper
NM_003322.6
p.P284fs
c.850_851fs
1 paper
NM_003322.6
p.S283_P284insFs
c.849_852dup4
1 paper
NM_003322.6
p.P285fs
c.853_854fs
1 paper
NM_003322.6
p.P285delFs
c.854delG
4 papers
NM_003322.6
p.E278E
c.834G>A
1 paper
NM_003322.6
p.R292W
c.874C>T
1 paper
NM_003322.6
p.V295delFs
c.885delC
1 paper
NM_003322.6
p.R292_L296Fs
c.875_888delinsTTTFs
1 paper
NM_003322.6
p.V286_R297del12
c.856_890del36
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