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

1–12 of 1857 variants

26 papers

NM_001369.3

p.D3605delFs

c.10815delA

23 papers

NM_001369.3

p.R4496*

c.13486C>T

15 papers

NM_001369.3

p.I1855insFs

c.5563dupA

14 papers

NM_001369.3

p.R3539C

c.10615C>T

11 papers

NM_001369.3

p.R2639*

c.7915C>T

10 papers

NM_001369.3

p.Q1835*

c.5503C>T

10 papers

NM_001369.3

p.R2677*

c.8029C>T

10 papers

NM_001369.3

p.E2814_N2816delFs

c.8440_8447del8

10 papers

NM_001369.3

p.P3606fs

c.10816_10817fs

10 papers

NM_001369.3

p.R4158W

c.12472C>T

9 papers

NM_001369.3

p.L572W

c.1715T>G

9 papers

NM_001369.3

p.R1454*

c.4360C>T