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.R2555W

c.7663C>T

Surrounding Variants

1 paper

NM_144666.3

p.R2561_G2562del2

c.7681_7685del6

1 paper

NM_144666.3

p.R2549H

c.7646G>A

1 paper

NM_144666.3

p.V2564D

c.7691T>A

1 paper

NM_144666.3

p.H2584L

c.7751A>T

1 paper

NM_144666.3

p.S2590F

c.7769C>T

1 paper

NM_144666.3

p.R2517C

c.7549C>T

1 paper

NM_144666.3

p.T2497K

c.7490C>A

1 paper

NM_144666.3

p.T2493T

c.7479G>A

1 paper

NM_144666.3

p.R2624C

c.7870C>T

1 paper

NM_144666.3

p.R2625R

c.7875G>A

2 papers

NM_144666.3

p.R2630*

c.7888C>T

1 paper

NM_144666.3

p.R2630Q

c.7889G>A