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.G3519fs

c.10555_10556fs

Surrounding Variants

4 papers

NM_001369.3

p.G3519R

c.10555G>C

4 papers

NM_001369.3

p.G3519R

c.10555G>A

1 paper

NM_001369.3

p.D3520Y

c.10558G>T

1 paper

NM_001369.3

p.L3522Q

c.10565T>A

1 paper

NM_001369.3

p.S3529C

c.10586C>G

2 papers

NM_001369.3

p.S3531S

c.10593T>A

2 papers

NM_001369.3

p.F3534S

c.10601T>C

1 paper

NM_001369.3

p.E3537G

c.10610A>G

14 papers

NM_001369.3

p.R3539C

c.10615C>T

2 papers

NM_001369.3

p.R3539P

c.10616G>C

8 papers

NM_001369.3

p.R3539H

c.10616G>A

1 paper

NM_001369.3

p.L3542M

c.10624C>A