Varaico: Literature-Extracted Genetic Variants

Gene:DNAL4
Variant:p.E51_S52Splc

DNAL4

14 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

Dynein_lightaa 20–104UCSCDynein light chain type 1

Gene Aliases

HGNC Name

dynein axonemal light chain 4

HGNC Alias Symbols

dJ327J16; PIG27

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005740.3
p.E51_S52Splc
c.153+2T>C
Surrounding Variants
1 paper
NM_005740.3
p.S47C
c.140C>G
1 paper
NM_005740.3
p.M27I
c.81G>T
1 paper
NM_005740.3
p.M27I
c.81G>C
1 paper
NM_005740.3
p.M27I
c.81G>A
1 paper
NM_005740.3
p.A54G
c.161C>G
1 paper
NM_005740.3
p.G94_G95insFs
c.282_283ins4
1 paper
NM_005740.3
p.A98T
c.292G>A
1 paper
NM_005740.3
p.G2*
c.4G>T
1 paper
NM_005740.3
p.G2_E3insT
c.4_8ins3
2 papers
NM_005740.3
p.M1insFs
c.2_3insT
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