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.H715H

c.2145T>C

Surrounding Variants

1 paper

NM_144666.3

p.D734E

c.2202C>A

1 paper

NM_144666.3

p.D734E

c.2202C>G

1 paper

NM_144666.3

p.T745M

c.2234C>T

2 papers

NM_144666.3

p.R749C

c.2245C>T

1 paper

NM_144666.3

p.L699L

c.2095C>T

1 paper

NM_144666.3

p.I762_E763delFs

c.2286_2287delCG

1 paper

NM_144666.3

p.Q697R

c.2090A>G

1 paper

NM_144666.3

p.V698delFs

c.2092delG

3 papers

NM_144666.3

p.N694S

c.2081A>G

2 papers

NM_144666.3

p.G769R

c.2305G>A

2 papers

NM_144666.3

p.G769R

c.2305G>C

1 paper

NM_144666.3

p.P687insFs

c.2061dupT