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.V1797A

c.5390T>C

Surrounding Variants

2 papers

NM_144666.3

p.V1795M

c.5383G>A

1 paper

NM_144666.3

p.S1787N

c.5360G>A

1 paper

NM_144666.3

p.G1786D

c.5357G>A

1 paper

NM_144666.3

p.Q1783delFs

c.5347delC

1 paper

NM_144666.3

p.T1774_S1775del2

c.5320_5324del6

1 paper

NM_144666.3

p.L1822fs

c.5464_5465fs

2 papers

NM_144666.3

p.R1755H

c.5264G>A

1 paper

NM_144666.3

p.R1854C

c.5560C>T

1 paper

NM_144666.3

p.L1861delFs

c.5581_5582delCT

2 papers

NM_144666.3

p.R1873S

c.5617C>A

2 papers

NM_144666.3

p.R1886Q

c.5657G>A

1 paper

NM_144666.3

p.R1901C

c.5701C>T