Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.R438P

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
2 papers
NM_003322.6
p.R438P
c.1313G>C
Surrounding Variants
5 papers
NM_003322.6
p.R440*
c.1318C>T
1 paper
NM_003322.6
p.P436R
c.1307C>G
1 paper
NM_003322.6
p.R434delFs
c.1301_1302delCC
2 papers
NM_003322.6
p.P426L
c.1277C>T
1 paper
NM_003322.6
p.I425T
c.1274T>C
1 paper
NM_003322.6
p.I424F
c.1270A>T
1 paper
NM_003322.6
p.V423A
c.1268T>C
1 paper
NM_003322.6
p.V423I
c.1267G>A
16 papers
NM_003322.6
p.R420P
c.1259G>C
1 paper
NM_003322.6
p.R420H
c.1259G>A
11 papers
NM_003322.6
p.R420S
c.1258C>A
8 papers
NM_003322.6
p.R419Q
c.1256G>A
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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."