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

3 papers

NM_001369.3

p.Q4467*

c.13399C>T

Surrounding Variants

1 paper

NM_001369.3

p.N4465insFs

c.13393_13394ins5

1 paper

NM_001369.3

p.S4470L

c.13409C>T

1 paper

NM_001369.3

p.I4462delFs

c.13386delT

1 paper

NM_001369.3

p.E4460K

c.13378G>A

3 papers

NM_001369.3

p.R4476*

c.13426C>T

1 paper

NM_001369.3

p.W4457R

c.13369T>C

1 paper

NM_001369.3

p.W4457R

c.13369T>A

1 paper

NM_001369.3

p.H4478fs

c.13432_13433fs

2 papers

NM_001369.3

p.G4455D

c.13364G>A

1 paper

NM_001369.3

p.H4478fs

c.13432_13433fs

3 papers

NM_001369.3

p.H4478_C4479delFs

c.13432_13435del4

3 papers

NM_001369.3

p.T4453T

c.13359A>G