Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.R311Q

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
9 papers
NM_003322.6
p.R311Q
c.932G>A
Surrounding Variants
4 papers
NM_003322.6
p.R311W
c.931C>T
1 paper
NM_003322.6
p.T310I
c.929C>T
1 paper
NM_003322.6
p.R306_C307delFs
c.917_920del4
1 paper
NM_003322.6
p.R306H
c.917G>A
1 paper
NM_003322.6
p.T304_V305del2
c.910_914del6
4 papers
NM_003322.6
p.G319D
c.956G>A
1 paper
NM_003322.6
p.G302_R303delFs
c.906_907delGG
1 paper
NM_003322.6
p.G302insFs
c.904_905insG
1 paper
NM_003322.6
p.M320R
c.959T>G
1 paper
NM_003322.6
p.G302A
c.905G>C
5 papers
NM_003322.6
p.Y321D
c.961T>G
2 papers
NM_003322.6
p.Q301fs
c.901_902fs
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