Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.K489R

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
20 papers
NM_003322.6
p.K489R
c.1466A>G
NM_001289395.2
p.K436R
c.1307A>G
Surrounding Variants
1 paper
NM_003322.6
p.V488A
c.1463T>C
16 papers
NM_003322.6
p.F491L
c.1471T>C
3 papers
NM_003322.6
p.F491S
c.1472T>C
2 papers
NM_003322.6
p.S487*
c.1460C>G
2 papers
NM_003322.6
p.S487*
c.1460C>A
2 papers
NM_003322.6
p.S487P
c.1459T>C
16 papers
NM_003322.6
p.F491L
c.1473C>G
16 papers
NM_003322.6
p.F491L
c.1473C>A
2 papers
NM_003322.6
p.Q492R
c.1475A>G
1 paper
NM_003322.6
p.L477_Q485del0
c.1430_1453del24
9 papers
NM_003322.6
p.A496T
c.1486G>A
12 papers
NM_003322.6
p.R482Q
c.1445G>A
NM_001289395.2
p.R429Q
c.1286G>A
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