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.D3440E

c.10320T>A

Surrounding Variants

1 paper

NM_144666.3

p.L3442F

c.10324C>T

1 paper

NM_144666.3

p.S3445L

c.10334C>T

1 paper

NM_144666.3

p.R3433C

c.10297C>T

1 paper

NM_144666.3

p.G3432E

c.10295G>A

1 paper

NM_144666.3

p.R3458W

c.10372C>T

1 paper

NM_144666.3

p.R3458Q

c.10373G>A

1 paper

NM_144666.3

p.R3459H

c.10376G>A

1 paper

NM_144666.3

p.E3465K

c.10393G>A

2 papers

NM_144666.3

p.R3488Q

c.10463G>A

1 paper

NM_144666.3

p.P3497S

c.10489C>T

1 paper

NM_144666.3

p.S3518L

c.10553C>T

1 paper

NM_144666.3

p.Q3428_K3429Splc

c.10284+7A>T