Varaico: Literature-Extracted Genetic Variants

Gene:DNAL1
Variant:p.K116I

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
1 paper
NM_031427.4
p.K116I
c.347A>T
Surrounding Variants
1 paper
NM_031427.4
p.L117W
c.350T>G
1 paper
NM_031427.4
p.I105delFs
c.315delT
1 paper
NM_031427.4
p.Y102F
c.305A>T
1 paper
NM_031427.4
p.L95_E96del1
c.285_287delAGA
1 paper
NM_031427.4
p.T94_L95insFs
c.282_283ins4
1 paper
NM_031427.4
p.K135E
c.403A>G
1 paper
NM_031427.4
p.L139V
c.415C>G
1 paper
NM_031427.4
p.N150delFs
c.448delA
8 papers
NM_031427.4
p.N150S
c.449A>G
1 paper
NM_031427.4
p.W162*
c.485G>A
1 paper
NM_031427.4
p.W162*
c.486G>A
1 paper
NM_031427.4
p.L176P
c.527T>C
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