Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.S353insFs

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.S353insFs
c.1059dupC
Surrounding Variants
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
1 paper
NM_003322.6
p.I352F
c.1054A>T
13 papers
NM_003322.6
p.N349K
c.1047T>G
13 papers
NM_003322.6
p.N349K
c.1047T>A
1 paper
NM_003322.6
p.N358delFs
c.1073delT
1 paper
NM_003322.6
p.N358_L359insFs
c.1074_1075dupTC
1 paper
NM_003322.6
p.P356_L359del4
c.1066_1076del12
1 paper
NM_003322.6
p.T347R
c.1040C>G
10 papers
NM_003322.6
p.R361*
c.1081C>T
2 papers
NM_003322.6
p.R361Q
c.1082G>A
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