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.E1976D

c.5928A>T

Surrounding Variants

1 paper

NM_144666.3

p.E1976D

c.5928A>C

1 paper

NM_144666.3

p.A1981S

c.5941G>T

1 paper

NM_144666.3

p.A1994V

c.5981C>T

5 papers

NM_144666.3

p.G1997S

c.5989G>A

1 paper

NM_144666.3

p.W2002L

c.6005G>T

3 papers

NM_144666.3

p.R2011W

c.6031C>T

1 paper

NM_144666.3

p.M2015T

c.6044T>C

3 papers

NM_144666.3

p.S2037G

c.6109A>G

1 paper

NM_144666.3

p.S1914A

c.5740T>G

1 paper

NM_144666.3

p.R1913H

c.5738G>A

1 paper

NM_144666.3

p.R1913insFs

c.5737_5738ins10

1 paper

NM_144666.3

p.R1913ins4

c.5737_5738ins12