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

2 papers

NM_144666.3

p.Y2166*

c.6498T>G

Surrounding Variants

1 paper

NM_144666.3

p.Y2166*

c.6498T>A

1 paper

NM_144666.3

p.R2169H

c.6506G>A

1 paper

NM_144666.3

p.R2173W

c.6517C>T

1 paper

NM_144666.3

p.N2179H

c.6535A>C

1 paper

NM_144666.3

p.Q2196K

c.6586C>A

1 paper

NM_144666.3

p.S2135S

c.6405C>A

1 paper

NM_144666.3

p.T2132I

c.6395C>T

1 paper

NM_144666.3

p.C2211*

c.6633T>A

1 paper

NM_144666.3

p.P2119L

c.6356C>T

1 paper

NM_144666.3

p.R2222H

c.6665G>A

1 paper

NM_144666.3

p.H2225R

c.6674A>G

1 paper

NM_144666.3

p.R2233C

c.6697C>T