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.F4138C

c.12413T>G

Surrounding Variants

1 paper

NM_001369.3

p.H4135Y

c.12403C>T

6 papers

NM_001369.3

p.A4134V

c.12401C>T

1 paper

NM_001369.3

p.A4134S

c.12400G>T

1 paper

NM_001369.3

p.L4143F

c.12427C>T

1 paper

NM_001369.3

p.E4133*

c.12397G>T

2 papers

NM_001369.3

p.Q4144*

c.12430C>T

1 paper

NM_001369.3

p.W4129*

c.12387G>A

1 paper

NM_001369.3

p.W4129*

c.12386G>A

3 papers

NM_001369.3

p.R4127H

c.12380G>A

1 paper

NM_001369.3

p.R4127C

c.12379C>T

2 papers

NM_001369.3

p.A4125V

c.12374C>T

7 papers

NM_001369.3

p.H4123Y

c.12367C>T