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.R1358C

c.4072C>T

Surrounding Variants

1 paper

NM_144666.3

p.L1345R

c.4034T>G

1 paper

NM_144666.3

p.L1338L

c.4014G>A

1 paper

NM_144666.3

p.E1379K

c.4135G>A

2 papers

NM_144666.3

p.Q1381*

c.4141C>T

1 paper

NM_144666.3

p.R1385*

c.4153C>T

1 paper

NM_144666.3

p.R1386H

c.4157G>A

1 paper

NM_144666.3

p.S1315S

c.3945T>C

1 paper

NM_144666.3

p.G1402A

c.4205G>C

1 paper

NM_144666.3

p.W1409*

c.4226G>A

1 paper

NM_144666.3

p.W1409*

c.4227G>A

1 paper

NM_144666.3

p.P1413S

c.4237C>T

1 paper

NM_144666.3

p.T1297T

c.3891C>T