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.G2754_F2755insA

c.8260_8264ins3

Surrounding Variants

1 paper

NM_001369.3

p.Q2752*

c.8254C>T

1 paper

NM_001369.3

p.S2756S

c.8268A>C

1 paper

NM_001369.3

p.E2758_V2759del1

c.8273_8275delCTT

1 paper

NM_001369.3

p.K2765Q

c.8293A>C

4 papers

NM_001369.3

p.R2771C

c.8311C>T

1 paper

NM_001369.3

p.R2771H

c.8312G>A

5 papers

NM_001369.3

p.R2772*

c.8314C>T

1 paper

NM_001369.3

p.W2774R

c.8320T>C

1 paper

NM_001369.3

p.W2774R

c.8320T>A

1 paper

NM_001369.3

p.T2784P

c.8350A>C

1 paper

NM_001369.3

p.K2787Q

c.8359A>C

4 papers

NM_001369.3

p.R2795*

c.8383C>T