Varaico: Literature-Extracted Genetic Variants

Gene:DNAL1
Variant:p.T57A

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.T57A
c.169A>G
Surrounding Variants
1 paper
NM_031427.4
p.S56A
c.166T>G
2 papers
NM_031427.4
p.K62E
c.184A>G
2 papers
NM_031427.4
p.K39E
c.115A>G
1 paper
NM_031427.4
p.P36S
c.106C>T
1 paper
NM_031427.4
p.I34F
c.100A>T
1 paper
NM_031427.4
p.Q33H
c.99G>C
1 paper
NM_031427.4
p.Q33H
c.99G>T
1 paper
NM_031427.4
p.E24_E27del4
c.70_80del12
2 papers
NM_031427.4
p.S23_E24del2
c.67_71del6
1 paper
NM_031427.4
p.W14_E15Splc
c.43-132A>G
1 paper
NM_031427.4
p.W14_E15Splc
c.42+9A>G
1 paper
NM_031427.4
p.R13K
c.38G>A
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