Varaico: Literature-Extracted Genetic Variants

DNAH2

265 papers

RefSeq Summary

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and...

Pfam Domains

DHC_N1aa 242–394UCSCDynein heavy chain, N-terminal region 1

DHC_N1aa 408–725UCSCDynein heavy chain, N-terminal region 1

DYH2-5-8_CCaa 1033–1152UCSCDynein axonemal heavy chain 2/5/8 coiled-coil

DHC_N2aa 1220–1628UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1765–2091UCSCHydrolytic ATP binding site of dynein motor region

Gene Aliases

HGNC Name

dynein axonemal heavy chain 2

HGNC Previous Symbol

DNHD3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 582 variants

10 papers

NM_020877.5

p.V4357D

c.13070T>A

5 papers

NM_020877.5

p.T3600I

c.10799C>T

5 papers

NM_020877.5

p.S3835P

c.11503T>C

4 papers

NM_020877.5

p.S312T

c.934T>A

4 papers

NM_020877.5

p.V1755V

c.5265C>G

4 papers

NM_020877.5

p.R1924C

c.5770C>T

4 papers

NM_020877.5

p.S2320R

c.6960C>A

4 papers

NM_020877.5

p.R3100W

c.9298C>T

4 papers

NM_020877.5

p.R3834*

c.11500C>T

4 papers

NM_020877.5

p.R4255Q

c.12764G>A

3 papers

NM_020877.5

p.H98H

c.294T>C

3 papers

NM_020877.5

p.S883L

c.2648C>T