Varaico: Literature-Extracted Genetic Variants

DNAH5

647 papers

RefSeq Summary

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein....

Pfam Domains

DHC_N1aa 250–802UCSCDynein heavy chain, N-terminal region 1

DYH2-5-8_CCaa 1221–1334UCSCDynein axonemal heavy chain 2/5/8 coiled-coil

DHC_N2aa 1402–1807UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1942–2269UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2424–2544UCSCDynein heavy chain AAA lid domain

AAA_7aa 2551–2732UCSCP-loop containing dynein motor region

Gene Aliases

HGNC Name

dynein axonemal heavy chain 5

HGNC Alias Symbols

Dnahc5; HL1; PCD; CILD3; KTGNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001369.3

p.W2801*

c.8402G>A

Surrounding Variants

1 paper

NM_001369.3

p.W2801*

c.8403G>A

6 papers

NM_001369.3

p.Q2802*

c.8404C>T

2 papers

NM_001369.3

p.V2800I

c.8398G>A

1 paper

NM_001369.3

p.R2799P

c.8396G>C

1 paper

NM_001369.3

p.R2799W

c.8395C>T

1 paper

NM_001369.3

p.L2797R

c.8390T>G

2 papers

NM_001369.3

p.N2806Y

c.8416A>T

4 papers

NM_001369.3

p.R2795*

c.8383C>T

2 papers

NM_001369.3

p.T2808I

c.8423C>T

3 papers

NM_001369.3

p.E2814*

c.8440G>T

2 papers

NM_001369.3

p.E2814fs

c.8440_8441fs

1 paper

NM_001369.3

p.K2787Q

c.8359A>C