Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.F506L

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
4 papers
NM_003322.6
p.F506L
c.1516T>C
Surrounding Variants
4 papers
NM_003322.6
p.F506L
c.1518C>G
4 papers
NM_003322.6
p.F506L
c.1518C>A
1 paper
NM_003322.6
p.G507R
c.1519G>C
1 paper
NM_003322.6
p.G507S
c.1519G>A
3 papers
NM_003322.6
p.L504fs
c.1510_1511fs
1 paper
NM_003322.6
p.G507del1
c.1519_1520delGCC
3 papers
NM_003322.6
p.L504_G507delFs
c.1511_1521del11
1 paper
NM_003322.6
p.V503_G507del0
c.1507_1521del15
2 papers
NM_003322.6
p.R508H
c.1523G>A
1 paper
NM_003322.6
p.V509delFs
c.1525delC
1 paper
NM_003322.6
p.A510T
c.1528G>A
1 paper
NM_003322.6
p.Y501insFs
c.1501_1502ins4
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