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.E947Q

c.2839G>C

Surrounding Variants

6 papers

NM_144666.3

p.E947*

c.2839G>T

1 paper

NM_144666.3

p.A955A

c.2865C>T

1 paper

NM_144666.3

p.S928N

c.2783G>A

1 paper

NM_144666.3

p.T970A

c.2908A>G

1 paper

NM_144666.3

p.A922V

c.2765C>T

1 paper

NM_144666.3

p.E918Q

c.2752G>C

1 paper

NM_144666.3

p.Q982H

c.2946G>C

1 paper

NM_144666.3

p.Q982H

c.2946G>T

1 paper

NM_144666.3

p.L909L

c.2725C>T

1 paper

NM_144666.3

p.D987G

c.2960A>G

1 paper

NM_144666.3

p.L988F

c.2962C>T

2 papers

NM_144666.3

p.L899delFs

c.2697delC