Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.R519W

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.R519W
c.1555C>T
Surrounding Variants
5 papers
NM_003322.6
p.P521S
c.1561C>T
3 papers
NM_003322.6
p.C523Y
c.1568G>A
2 papers
NM_003322.6
p.D512delFs
c.1536delG
1 paper
NM_003322.6
p.L525_Q526insC
c.1573_1577ins3
1 paper
NM_003322.6
p.L525R
c.1574T>G
1 paper
NM_003322.6
p.Q526*
c.1576C>T
1 paper
NM_003322.6
p.L525_Q526del2
c.1573_1577del6
1 paper
NM_003322.6
p.A510T
c.1528G>A
1 paper
NM_003322.6
p.V509delFs
c.1525delC
2 papers
NM_003322.6
p.R508H
c.1523G>A
1 paper
NM_003322.6
p.G507del1
c.1519_1520delGCC
3 papers
NM_003322.6
p.L504_G507delFs
c.1511_1521del11
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