Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.K369R

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.K369R
c.1106A>G
Surrounding Variants
1 paper
NM_003322.6
p.N365_K369delFs
c.1093_1106del14
11 papers
NM_003322.6
p.G368W
c.1102G>T
1 paper
NM_003322.6
p.G368R
c.1102G>C
1 paper
NM_003322.6
p.G368R
c.1102G>A
1 paper
NM_003322.6
p.R371Splc
c.1112+1G>T
1 paper
NM_003322.6
p.R371Splc
c.1112+2T>G
4 papers
NM_003322.6
p.R371Splc
c.1112+2T>C
1 paper
NM_003322.6
p.R371Splc
c.1112+8T>G
10 papers
NM_003322.6
p.G363R
c.1087G>C
10 papers
NM_003322.6
p.G363R
c.1087G>A
2 papers
NM_003322.6
p.R361Q
c.1082G>A
10 papers
NM_003322.6
p.R361*
c.1081C>T
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