Varaico: Literature-Extracted Genetic Variants

DNAH5

647 papers

RefSeq Summary

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein....

Pfam Domains

DHC_N1aa 250–802UCSCDynein heavy chain, N-terminal region 1

DYH2-5-8_CCaa 1221–1334UCSCDynein axonemal heavy chain 2/5/8 coiled-coil

DHC_N2aa 1402–1807UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1942–2269UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2424–2544UCSCDynein heavy chain AAA lid domain

AAA_7aa 2551–2732UCSCP-loop containing dynein motor region

Gene Aliases

HGNC Name

dynein axonemal heavy chain 5

HGNC Alias Symbols

Dnahc5; HL1; PCD; CILD3; KTGNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_001369.3

p.R4158W

c.12472C>T

Surrounding Variants

1 paper

NM_001369.3

p.R4158L

c.12473G>T

1 paper

NM_001369.3

p.A4159T

c.12475G>A

3 papers

NM_001369.3

p.G4156G

c.12468A>C

1 paper

NM_001369.3

p.G4156A

c.12467G>C

1 paper

NM_001369.3

p.L4161L

c.12483G>A

2 papers

NM_001369.3

p.R4163I

c.12488G>T

1 paper

NM_001369.3

p.T4164A

c.12490A>G

1 paper

NM_001369.3

p.T4164T

c.12492A>G

1 paper

NM_001369.3

p.Y4165*

c.12495T>A

1 paper

NM_001369.3

p.S4166insFs

c.12496dupA

2 papers

NM_001369.3

p.Q4144*

c.12430C>T

1 paper

NM_001369.3

p.L4143F

c.12427C>T