Varaico: Literature-Extracted Genetic Variants

Gene:DYNC2LI1
Variant:p.M1T

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
2 papers
NM_016008.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_016008.4
p.S3Splc
c.8+100C>T
1 paper
NM_016008.4
p.L6_W7delFs
c.18_19delCT
1 paper
NM_016008.4
p.L6F
c.16C>T
1 paper
NM_016008.4
p.W7fs
c.19_20fs
1 paper
NM_016008.4
p.G18insFs
c.53dupG
1 paper
NM_016008.4
p.R17G
c.49A>G
1 paper
NM_016008.4
p.G18_I19del2
c.52_56del6
1 paper
NM_016008.4
p.I19fs
c.55_56fs
1 paper
NM_016008.4
p.G24D
c.71G>A
1 paper
NM_016008.4
p.G26V
c.77G>T
4 papers
NM_016008.4
p.F33S
c.98T>C
2 papers
NM_016008.4
p.N41_G42insFs
c.123_124insA
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