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

1 paper

NM_001369.3

p.K1850T

c.5549A>C

Surrounding Variants

1 paper

NM_001369.3

p.F1851L

c.5551T>C

1 paper

NM_001369.3

p.F1851L

c.5553T>G

1 paper

NM_001369.3

p.F1851L

c.5553T>A

1 paper

NM_001369.3

p.D1852V

c.5555A>T

4 papers

NM_001369.3

p.K1853*

c.5557A>T

1 paper

NM_001369.3

p.L1846P

c.5537T>C

5 papers

NM_001369.3

p.I1855fs

c.5563_5564fs

15 papers

NM_001369.3

p.I1855insFs

c.5563dupA

2 papers

NM_001369.3

p.A1845D

c.5534C>A

1 paper

NM_001369.3

p.A1845T

c.5533G>A

5 papers

NM_001369.3

p.I1855fs

c.5563_5564fs

1 paper

NM_001369.3

p.E1843A

c.5528A>C