Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.V423I

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.V423I
c.1267G>A
Surrounding Variants
1 paper
NM_003322.6
p.V423A
c.1268T>C
1 paper
NM_003322.6
p.I424F
c.1270A>T
1 paper
NM_003322.6
p.I425T
c.1274T>C
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
2 papers
NM_003322.6
p.P426L
c.1277C>T
8 papers
NM_003322.6
p.R419Q
c.1256G>A
6 papers
NM_003322.6
p.R419W
c.1255C>T
1 paper
NM_003322.6
p.R419G
c.1255C>G
1 paper
NM_003322.6
p.R416H
c.1247G>A
5 papers
NM_003322.6
p.R416C
c.1246C>T
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