Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.N349K

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
13 papers
NM_003322.6
p.N349K
c.1047T>A
Surrounding Variants
13 papers
NM_003322.6
p.N349K
c.1047T>G
1 paper
NM_003322.6
p.T347R
c.1040C>G
1 paper
NM_003322.6
p.I352F
c.1054A>T
1 paper
NM_003322.6
p.S353insFs
c.1059dupC
1 paper
NM_003322.6
p.I354delFs
c.1060delT
2 papers
NM_003322.6
p.D355N
c.1063G>A
5 papers
NM_003322.6
p.D355V
c.1064A>T
12 papers
NM_003322.6
p.R342Q
c.1025G>A
1 paper
NM_003322.6
p.R342*
c.1024C>T
1 paper
NM_003322.6
p.N358delFs
c.1073delT
1 paper
NM_003322.6
p.R340G
c.1018A>G
1 paper
NM_003322.6
p.N358_L359insFs
c.1074_1075dupTC
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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."