Varaico: Literature-Extracted Genetic Variants

DNAH3

152 papers

RefSeq Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, interme...

Pfam Domains

DHC_N2aa 859–1264UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1391–1717UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1883–2028UCSCDynein heavy chain AAA lid domain

AAA_7aa 2035–2215UCSCP-loop containing dynein motor region

AAA_lid_1aa 2247–2346UCSCAAA+ lid domain

AAA_8aa 2404–2664UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 3

HGNC Alias Symbols

Dnahc3b; DLP3; Hsadhc3; DKFZp434N074

Papers

RefSeq ID

Protein change

DNA change

1–12 of 220 variants

4 papers

NM_001347886.2

p.D1715N

c.5143G>A

3 papers

NM_001347886.2

p.G1613*

c.4837G>T

3 papers

NM_001347886.2

p.L2640R

c.7919T>G

2 papers

NM_001347886.2

p.M1insFs

c.2_3insT

2 papers

NM_001347886.2

p.T1143T

c.3429A>C

2 papers

NM_001347886.2

p.S1608F

c.4823C>T

2 papers

NM_001347886.2

p.A1752V

c.5255C>T

2 papers

NM_001347886.2

p.Q1777*

c.5329C>T

2 papers

NM_001347886.2

p.G2761R

c.8281G>C

2 papers

NM_017539.2

p.V3189delFs

c.9565delC

2 papers

NM_017539.2

p.V3189fs

c.9565_9566fs

2 papers

NM_017539.2

p.W3420*

c.10259G>A