Varaico: Literature-Extracted Genetic Variants

Gene:DNAL1

DNAL1

78 papers

RefSeq Summary

This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an A...

Pfam Domains

LRR_4aa 48–90UCSCLeucine Rich repeats (2 copies)

Gene Aliases

HGNC Name

dynein axonemal light chain 1

HGNC Previous Symbol

C14orf168

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
8 papers
NM_031427.4
p.N150S
c.449A>G
5 papers
NM_031427.4
p.M1insFs
c.2dupT
5 papers
NM_031427.4
p.M1_A2Splc
c.4-4A>T
5 papers
NM_031427.4
p.A2_K3insT
c.4_8ins3
2 papers
NM_031427.4
p.K8delFs
c.23_24delAA
2 papers
NM_031427.4
p.K8E
c.22A>G
2 papers
NM_031427.4
p.K8fs
c.22_23fs
2 papers
NM_031427.4
p.S23_E24del2
c.67_71del6
2 papers
NM_031427.4
p.K39E
c.115A>G
2 papers
NM_031427.4
p.T57A
c.169A>G
2 papers
NM_031427.4
p.K62E
c.184A>G
2 papers
NM_031427.4
p.D185G
c.554A>G
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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."