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

Selected Variant

1 paper

NM_001347886.2

p.E332D

c.996A>T

Surrounding Variants

1 paper

NM_001347886.2

p.P353S

c.1057C>T

1 paper

NM_001347886.2

p.A346_Q354del9

c.1036_1061del27

1 paper

NM_001347886.2

p.L382F

c.1144C>T

1 paper

NM_017539.2

p.L452_L463del12

c.1354_1388del36

1 paper

NM_001347886.2

p.F435L

c.1305C>A

1 paper

NM_001347886.2

p.F444S

c.1331T>C

1 paper

NM_001347886.2

p.Q449H

c.1347A>T

1 paper

NM_001347886.2

p.F453S

c.1358T>C

1 paper

NM_001347886.2

p.K499_V500Splc

c.1497+2T>C

1 paper

NM_001347886.2

p.L328L

c.982C>T

1 paper

NM_001347886.2

p.W310*

c.930G>A

1 paper

NM_001347886.2

p.W310*

c.929G>A