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

1–12 of 471 variants

6 papers

NM_144666.3

p.E947*

c.2839G>T

6 papers

NM_144666.3

p.E2703del1

c.8107_8108delGAG

6 papers

NM_144666.3

p.D3313N

c.9937G>A

5 papers

NM_144666.3

p.A1909ins4

c.5726_5727ins12

5 papers

NM_144666.3

p.G1997S

c.5989G>A

5 papers

NM_144666.3

p.R2928*

c.8782C>T

4 papers

NM_144666.3

p.R861C

c.2581C>T

3 papers

NM_144666.3

p.N694S

c.2081A>G

3 papers

NM_144666.3

p.R2011W

c.6031C>T

3 papers

NM_144666.3

p.S2037G

c.6109A>G

3 papers

NM_144666.3

p.G2347insFs

c.7041dupC

3 papers

NM_144666.3

p.P2706T

c.8116C>A