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

26 papers

NM_001369.3

p.D3605delFs

c.10815delA

Surrounding Variants

10 papers

NM_001369.3

p.P3606fs

c.10816_10817fs

2 papers

NM_001369.3

p.D3605fs

c.10813_10814fs

5 papers

NM_001369.3

p.P3606fs

c.10816_10817fs

1 paper

NM_001369.3

p.D3605_P3606del1

c.10815_10817delGGA

1 paper

NM_001369.3

p.D3605N

c.10813G>A

3 papers

NM_001369.3

p.Q3609*

c.10825C>T

1 paper

NM_001369.3

p.I3612N

c.10835T>A

1 paper

NM_001369.3

p.R3599L

c.10796G>T

1 paper

NM_001369.3

p.A3597S

c.10789G>T

1 paper

NM_001369.3

p.K3596M

c.10787A>T

2 papers

NM_001369.3

p.T3595M

c.10784C>T

1 paper

NM_001369.3

p.E3618fs

c.10852_10853fs