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

3 papers

NM_144666.3

p.G2347insFs

c.7041dupC

Surrounding Variants

2 papers

NM_144666.3

p.Q2348fs

c.7042_7043fs

1 paper

NM_144666.3

p.Q2348fs

c.7042_7043fs

1 paper

NM_144666.3

p.Y2321_E2323delFs

c.6962_6968del7

1 paper

NM_144666.3

p.D2308V

c.6923A>T

2 papers

NM_144666.3

p.V2374M

c.7120G>A

1 paper

NM_144666.3

p.P2383A

c.7147C>G

1 paper

NM_144666.3

p.S2286_F2287del2

c.6856_6860del6

2 papers

NM_144666.3

p.D2275H

c.6823G>C

1 paper

NM_144666.3

p.D2272N

c.6814G>A

1 paper

NM_144666.3

p.I2409T

c.7226T>C

1 paper

NM_144666.3

p.P2412H

c.7235C>A

1 paper

NM_144666.3

p.R2428T

c.7283G>C