Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.L525_Q526del2

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.L525_Q526del2
c.1573_1577del6
Surrounding Variants
1 paper
NM_003322.6
p.Q526*
c.1576C>T
1 paper
NM_003322.6
p.L525R
c.1574T>G
1 paper
NM_003322.6
p.L525_Q526insC
c.1573_1577ins3
4 papers
NM_003322.6
p.F528_A529ins0
c.1582_1587dup6
3 papers
NM_003322.6
p.C523Y
c.1568G>A
2 papers
NM_003322.6
p.I530M
c.1590C>G
1 paper
NM_003322.6
p.I530_A531ins0
c.1588_1593dup6
1 paper
NM_003322.6
p.L532insFs
c.1594dupC
1 paper
NM_003322.6
p.S533P
c.1597T>C
5 papers
NM_003322.6
p.P521S
c.1561C>T
2 papers
NM_003322.6
p.S534G
c.1600A>G
1 paper
NM_003322.6
p.R519W
c.1555C>T
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