Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.R371Splc

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.R371Splc
c.1113-2A>G
Surrounding Variants
3 papers
NM_003322.6
p.R371Splc
c.1113-2A>C
1 paper
NM_003322.6
p.N373D
c.1117A>G
1 paper
NM_003322.6
p.S372_L375delFs
c.1115_1125del11
2 papers
NM_003322.6
p.R378H
c.1133G>A
9 papers
NM_003322.6
p.T380A
c.1138A>G
1 paper
NM_003322.6
p.N377_T380delFs
c.1130_1139del10
13 papers
NM_003322.6
p.F382S
c.1145T>C
1 paper
NM_003322.6
p.F382_D383insFs
c.1144_1147dup4
2 papers
NM_003322.6
p.D383E
c.1149C>G
2 papers
NM_003322.6
p.D383E
c.1149C>A
5 papers
NM_003322.6
p.G385R
c.1153G>C
5 papers
NM_003322.6
p.G385R
c.1153G>A
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