Varaico: Literature-Extracted Genetic Variants

Gene:DNAL1
Variant:p.K8fs

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
Selected Variant
2 papers
NM_031427.4
p.K8fs
c.22_23fs
Surrounding Variants
2 papers
NM_031427.4
p.K8E
c.22A>G
2 papers
NM_031427.4
p.K8delFs
c.23_24delAA
1 paper
NM_031427.4
p.K8_E9delFs
c.24_27del4
1 paper
NM_031427.4
p.A12A
c.36G>A
1 paper
NM_031427.4
p.K3E
c.7A>G
1 paper
NM_031427.4
p.R13K
c.38G>A
1 paper
NM_031427.4
p.A2insFs
c.5dupC
5 papers
NM_031427.4
p.A2_K3insT
c.4_8ins3
5 papers
NM_031427.4
p.M1_A2Splc
c.4-4A>T
1 paper
NM_031427.4
p.W14_E15Splc
c.42+9A>G
1 paper
NM_031427.4
p.W14_E15Splc
c.43-132A>G
2 papers
NM_031427.4
p.S23_E24del2
c.67_71del6
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