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.L3563V

c.10687C>G

Surrounding Variants

1 paper

NM_001369.3

p.S3564R

c.10690A>C

1 paper

NM_001369.3

p.S3564R

c.10692T>G

1 paper

NM_001369.3

p.S3564R

c.10692T>A

1 paper

NM_001369.3

p.L3567S

c.10700T>C

1 paper

NM_001369.3

p.I3568T

c.10703T>C

1 paper

NM_001369.3

p.P3556L

c.10667C>T

1 paper

NM_001369.3

p.P3556S

c.10666C>T

3 papers

NM_001369.3

p.R3553Q

c.10658G>A

3 papers

NM_001369.3

p.R3553W

c.10657C>T

1 paper

NM_001369.3

p.T3572_I3573del1

c.10715_10717delTAG

1 paper

NM_001369.3

p.E3575K

c.10723G>A

2 papers

NM_001369.3

p.E3549G

c.10646A>G