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

11 papers

NM_001369.3

p.R2639*

c.7915C>T

Surrounding Variants

4 papers

NM_001369.3

p.K2638_R2639insFs

c.7914_7915insA

1 paper

NM_001369.3

p.K2638*

c.7912A>T

1 paper

NM_001369.3

p.V2636L

c.7906G>T

1 paper

NM_001369.3

p.V2636L

c.7906G>C

1 paper

NM_001369.3

p.T2642A

c.7924A>G

1 paper

NM_001369.3

p.E2633_S2634del0

c.7897_7902del6

1 paper

NM_001369.3

p.E2633_S2634delFs

c.7898_7901del4

1 paper

NM_001369.3

p.E2633fs

c.7897_7898fs

1 paper

NM_001369.3

p.T2631M

c.7892C>T

1 paper

NM_001369.3

p.P2647S

c.7939C>T

1 paper

NM_001369.3

p.P2647L

c.7940C>T

1 paper

NM_001369.3

p.R2630W

c.7888A>T