Varaico: Literature-Extracted Genetic Variants

DNHD1

11p15.4 (UCSC)OMIM PanelApp GTEx

235 papers

Pfam Domains

DHC_N2aa 1012–1466UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1649–1999UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2248–2347UCSCDynein heavy chain AAA lid domain

AAA_7aa 2359–2530UCSCP-loop containing dynein motor region

AAA_8aa 2861–3125UCSCP-loop containing dynein motor region D4

MTaa 3176–3469UCSCMicrotubule-binding stalk of dynein motor

Gene Aliases

HGNC Name

dynein heavy chain domain 1

HGNC Previous Symbols

DHCD1; C11orf47; DNHD1L; CCDC35

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144666.3

p.E616K

c.1846G>A

Surrounding Variants

1 paper

NM_144666.3

p.E614_D615del1

c.1842_1844delAGA

1 paper

NM_144666.3

p.K621insFs

c.1862dupA

1 paper

NM_144666.3

p.D622A

c.1865A>C

1 paper

NM_144666.3

p.A636D

c.1907C>A

1 paper

NM_144666.3

p.L647M

c.1939T>A

1 paper

NM_144666.3

p.W649*

c.1946G>A

1 paper

NM_144666.3

p.W649*

c.1947G>A

1 paper

NM_144666.3

p.R663H

c.1988G>A

2 papers

NM_144666.3

p.G664R

c.1990G>A

2 papers

NM_144666.3

p.G664R

c.1990G>C

1 paper

NM_144666.3

p.P687insFs

c.2061dupT

3 papers

NM_144666.3

p.N694S

c.2081A>G