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

2 papers

NM_001347886.2

p.M1insFs

c.2_3insT

Surrounding Variants

1 paper

NM_001347886.2

p.M1K

c.2T>A

1 paper

NM_001347886.2

p.G2_D3insT

c.4_8ins3

1 paper

NM_001347886.2

p.G2ins2

c.5_6ins6

1 paper

NM_001347886.2

p.Q45_T46Splc

c.136-3T>G

1 paper

NM_001347886.2

p.P54L

c.161C>T

1 paper

NM_001347886.2

p.L94_K95insFs

c.282_283ins4

1 paper

NM_001347886.2

p.D111N

c.331G>A

1 paper

NM_001347886.2

p.G114S

c.340G>A

1 paper

NM_001347886.2

p.G116_P118del0

c.346_354del9

1 paper

NM_001347886.2

p.S125*

c.374C>G

1 paper

NM_001347886.2

p.K134K

c.402G>A

1 paper

NM_001347886.2

p.M174L

c.520A>T