Varaico: Literature-Extracted Genetic Variants

Gene:TTLL5
Variant:p.W1118*

TTLL5

192 papers

RefSeq Summary

This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid r...

Pfam Domains

TTLaa 110–406UCSCTubulin-tyrosine ligase family

Gene Aliases

HGNC Name

tubulin tyrosine ligase like 5

HGNC Previous Symbol

KIAA0998

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_015072.5
p.W1118*
c.3353G>A
Surrounding Variants
7 papers
NM_015072.5
p.W1118*
c.3354G>A
1 paper
NM_015072.5
p.A1117V
c.3350C>T
1 paper
NM_015072.5
p.A1117S
c.3349G>T
1 paper
NM_015072.5
p.V1122L
c.3364G>C
1 paper
NM_015072.5
p.V1122L
c.3364G>T
1 paper
NM_015072.5
p.V1126M
c.3376G>A
1 paper
NM_015072.5
p.T1142I
c.3425C>T
1 paper
NM_015072.5
p.Q1149*
c.3445C>T
1 paper
NM_015072.5
p.Q1153P
c.3458A>C
1 paper
NM_015072.5
p.L1166fs
c.3496_3497fs
2 papers
NM_015072.5
p.L1166_Q1168delFs
c.3498_3502del5
1 paper
NM_015072.5
p.D1167fs
c.3499_3500fs
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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."