Varaico: Literature-Extracted Genetic Variants

DYNC1H1

1,071 papers

RefSeq Summary

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in int...

Pfam Domains

DHC_N1aa 242–832UCSCDynein heavy chain, N-terminal region 1

DHC_N2aa 1319–1720UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1868–2231UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2423–2550UCSCDynein heavy chain AAA lid domain

AAA_7aa 2557–2739UCSCP-loop containing dynein motor region

DYN_lidaa 2751–2843UCSCDynein heavy chain, ATPase lid domain

Gene Aliases

HGNC Name

dynein cytoplasmic 1 heavy chain 1

HGNC Previous Symbols

DNECL; DNCL; DNCH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001376.5

p.I3351F

c.10051A>T

Surrounding Variants

1 paper

NM_001376.5

p.A3356A

c.10068A>T

2 papers

NM_001376.5

p.E3345K

c.10033G>A

18 papers

NM_001376.5

p.R3344Q

c.10031G>A

4 papers

NM_001376.5

p.R3344W

c.10030C>T

2 papers

NM_001376.5

p.S3360G

c.10078A>G

3 papers

NM_001376.5

p.R3339H

c.10016G>A

15 papers

NM_001376.5

p.K3336N

c.10008G>C

15 papers

NM_001376.5

p.K3336N

c.10008G>T

2 papers

NM_001376.5

p.L3321_S3323delins

c.9961_9967delinsTCGTCTT

1 paper

NM_001376.5

p.A3320V

c.9959C>T

2 papers

NM_001376.5

p.K3318N

c.9954G>C

2 papers

NM_001376.5

p.K3318N

c.9954G>T