Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2LI1
Variant:p.F109F

DYNC2LI1

59 papers

RefSeq Summary

This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transpo...

Pfam Domains

DLICaa 2–179UCSCDynein light intermediate chain (DLIC)

Gene Aliases

HGNC Name

dynein cytoplasmic 2 light intermediate chain 1

HGNC Alias Symbols

D2LIC; LIC3; CGI-60; DKFZP564A033

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016008.4
p.F109F
c.327T>C
Surrounding Variants
1 paper
NM_016008.4
p.R107R
c.321G>T
1 paper
NM_016008.4
p.L115L
c.345G>A
6 papers
NM_016008.4
p.L117V
c.349C>G
4 papers
NM_016008.4
p.P120S
c.358C>T
2 papers
NM_016008.4
p.L123_W124insA
c.367_371ins3
3 papers
NM_016008.4
p.W124*
c.371G>A
4 papers
NM_016008.4
p.W124*
c.372G>A
1 paper
NM_016008.4
p.L130P
c.389T>C
2 papers
NM_016008.4
p.K140delFs
c.420delA
1 paper
NM_016008.4
p.P169_D170Splc
c.507+44T>A
1 paper
NM_016008.4
p.P169_D170Splc
c.508-4G>A
1 paper
NM_016008.4
p.P169_D170Splc
c.508-1G>A
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