Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.P499S

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.P499S
c.1495C>T
Surrounding Variants
2 papers
NM_003322.6
p.P499Splc
c.1495+1G>C
15 papers
NM_003322.6
p.P499Splc
c.1495+1G>A
3 papers
NM_003322.6
p.P499Splc
c.1495+4A>C
1 paper
NM_003322.6
p.P499Splc
c.1495+5G>A
1 paper
NM_003322.6
p.P499Splc
c.1495+6T>C
9 papers
NM_003322.6
p.A496T
c.1486G>A
2 papers
NM_003322.6
p.Q492R
c.1475A>G
16 papers
NM_003322.6
p.F491L
c.1473C>G
16 papers
NM_003322.6
p.F491L
c.1473C>A
3 papers
NM_003322.6
p.F491S
c.1472T>C
16 papers
NM_003322.6
p.F491L
c.1471T>C
20 papers
NM_003322.6
p.K489R
c.1466A>G
NM_001289395.2
p.K436R
c.1307A>G
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