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

23 papers

NM_001369.3

p.R4496*

c.13486C>T

Surrounding Variants

1 paper

NM_001369.3

p.Q4497E

c.13489C>G

1 paper

NM_001369.3

p.F4486_L4492delFs

c.13457_13475del19

1 paper

NM_001369.3

p.P4488T

c.13462C>A

1 paper

NM_001369.3

p.N4487fs

c.13459_13460fs

8 papers

NM_001369.3

p.F4486_N4487insFs

c.13458_13459insT

1 paper

NM_001369.3

p.F4486delFs

c.13458delA

1 paper

NM_001369.3

p.F4486fs

c.13456_13457fs

1 paper

NM_001369.3

p.F4486fs

c.13456_13457fs

1 paper

NM_001369.3

p.G4484delFs

c.13451delC

1 paper

NM_001369.3

p.G4484S

c.13450G>A

3 papers

NM_001369.3

p.T4483M

c.13448C>T

1 paper

NM_001369.3

p.W4481*

c.13443G>A