Varaico: Literature-Extracted Genetic Variants

Gene:TULP1

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
1–12 of 436 variants
28 papers
NM_003322.6
p.Q301*
c.901C>T
18 papers
NM_003322.6
p.K489R
c.1466A>G
16 papers
NM_003322.6
p.R420P
c.1259G>C
16 papers
NM_003322.6
p.F491L
c.1471T>C
16 papers
NM_003322.6
p.F491L
c.1473C>G
16 papers
NM_003322.6
p.F491L
c.1473C>A
15 papers
NM_003322.6
p.P499Splc
c.1495+1G>A
14 papers
NM_003322.6
p.R400W
c.1198C>T
14 papers
NM_003322.6
p.P499Splc
c.1496-6C>A
13 papers
NM_003322.6
p.N349K
c.1047T>G
13 papers
NM_003322.6
p.N349K
c.1047T>A
13 papers
NM_003322.6
p.F382S
c.1145T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."