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.L2673P

c.8018T>C

Surrounding Variants

1 paper

NM_144666.3

p.Q2677insFs

c.8030_8031insA

1 paper

NM_144666.3

p.Q2677E

c.8029C>G

1 paper

NM_144666.3

p.R2665C

c.7993C>T

6 papers

NM_144666.3

p.E2703del1

c.8107_8108delGAG

1 paper

NM_144666.3

p.E2697*

c.8089G>T

3 papers

NM_144666.3

p.P2706T

c.8116C>A

1 paper

NM_144666.3

p.R2630Q

c.7889G>A

2 papers

NM_144666.3

p.R2630*

c.7888C>T

1 paper

NM_144666.3

p.F2720L

c.8158T>C

1 paper

NM_144666.3

p.F2720L

c.8160C>A

1 paper

NM_144666.3

p.F2720L

c.8160C>G

1 paper

NM_144666.3

p.R2625R

c.7875G>A