Varaico: Literature-Extracted Genetic Variants

Gene:IFT57

IFT57

47 papers

Pfam Domains

IFT57aa 44–401UCSCIntra-flagellar transport protein 57

Gene Aliases

HGNC Name

intraflagellar transport 57

HGNC Previous Symbol

ESRRBL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
3 papers
NM_018010.4
p.V195_E196Splc
c.585+3A>G
3 papers
NM_018010.4
p.K259K
c.777G>A
1 paper
NM_018010.4
p.G12A
c.35G>C
1 paper
NM_018010.4
p.R19M
c.56G>T
1 paper
NM_018010.4
p.F41C
c.122T>G
1 paper
NM_018010.4
p.P69Q
c.206C>A
1 paper
NM_018010.4
p.H72R
c.215A>G
1 paper
NM_018010.4
p.E82K
c.244G>A
1 paper
NM_018010.4
p.G99E
c.296G>A
1 paper
NM_018010.4
p.E103G
c.308A>G
1 paper
NM_018010.4
p.E121D
c.363G>T
1 paper
NM_018010.4
p.E121D
c.363G>C
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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."