Varaico: Literature-Extracted Genetic Variants

Gene:TULP1
Variant:p.R400W

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
14 papers
NM_003322.6
p.R400W
c.1198C>T
Surrounding Variants
1 paper
NM_003322.6
p.R400G
c.1198C>G
1 paper
NM_003322.6
p.R400L
c.1199G>T
14 papers
NM_003322.6
p.R400Q
c.1199G>A
NM_001289395.2
p.R347Q
c.1040G>A
2 papers
NM_003322.6
p.Q401*
c.1201C>T
1 paper
NM_003322.6
p.S398R
c.1194C>G
1 paper
NM_003322.6
p.S398R
c.1194C>A
7 papers
NM_003322.6
p.E402*
c.1204G>T
1 paper
NM_003322.6
p.S398R
c.1192A>C
1 paper
NM_003322.6
p.V396delFs
c.1187_1188delCA
1 paper
NM_003322.6
p.N395N
c.1185T>C
1 paper
NM_003322.6
p.A404V
c.1211C>T
1 paper
NM_003322.6
p.S393_T394del2
c.1177_1181del6
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