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.M1491I

c.4473G>T

Surrounding Variants

1 paper

NM_001369.3

p.M1491I

c.4473G>C

1 paper

NM_001369.3

p.M1491I

c.4473G>A

1 paper

NM_001369.3

p.A1490P

c.4468G>C

1 paper

NM_001369.3

p.R1494W

c.4480C>T

1 paper

NM_001369.3

p.E1497*

c.4489G>T

1 paper

NM_001369.3

p.E1497K

c.4489G>A

1 paper

NM_001369.3

p.P1481L

c.4442C>T

1 paper

NM_001369.3

p.C1479F

c.4436G>T

1 paper

NM_001369.3

p.G1504R

c.4510G>C

1 paper

NM_001369.3

p.G1504R

c.4510G>A

1 paper

NM_001369.3

p.D1475N

c.4423G>A

1 paper

NM_001369.3

p.D1508V

c.4523A>T