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.A3396S

c.10186G>T

Surrounding Variants

1 paper

NM_144666.3

p.A3396T

c.10186G>A

1 paper

NM_144666.3

p.V3385M

c.10153G>A

1 paper

NM_144666.3

p.K3383R

c.10148A>G

1 paper

NM_144666.3

p.R3363C

c.10087C>T

1 paper

NM_144666.3

p.Q3428_K3429Splc

c.10284+7A>T

1 paper

NM_144666.3

p.E3360*

c.10078G>T

1 paper

NM_144666.3

p.L3344P

c.10031T>C

1 paper

NM_144666.3

p.A3332V

c.9995C>T

6 papers

NM_144666.3

p.D3313N

c.9937G>A

1 paper

NM_144666.3

p.A3308P

c.9922G>C

1 paper

NM_144666.3

p.L3302I

c.9904T>A

1 paper

NM_144666.3

p.G3432E

c.10295G>A