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

9 papers

NM_001369.3

p.L572W

c.1715T>G

Surrounding Variants

1 paper

NM_001369.3

p.M571T

c.1712T>C

1 paper

NM_001369.3

p.R570K

c.1709G>A

1 paper

NM_001369.3

p.A568A

c.1704T>A

5 papers

NM_001369.3

p.R577T

c.1730G>C

1 paper

NM_001369.3

p.T565S

c.1693A>T

1 paper

NM_001369.3

p.T565A

c.1693A>G

1 paper

NM_001369.3

p.A560V

c.1679C>T

7 papers

NM_001369.3

p.T558A

c.1672A>G

2 papers

NM_001369.3

p.D556G

c.1667A>G

1 paper

NM_001369.3

p.M555T

c.1664T>C

1 paper

NM_001369.3

p.R552W

c.1654C>T

1 paper

NM_001369.3

p.E550K

c.1648G>A