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.W1463*

c.4389G>A

Surrounding Variants

2 papers

NM_001369.3

p.W1463*

c.4388G>A

1 paper

NM_001369.3

p.D1462Y

c.4384G>T

1 paper

NM_001369.3

p.L1460F

c.4380G>C

1 paper

NM_001369.3

p.L1467insFs

c.4400dupT

1 paper

NM_001369.3

p.L1467fs

c.4399_4400fs

1 paper

NM_001369.3

p.F1466_L1467delFs

c.4398_4399delAA

1 paper

NM_001369.3

p.A1459T

c.4375G>A

2 papers

NM_001369.3

p.R1458R

c.4374G>T

1 paper

NM_001369.3

p.R1458Q

c.4373G>A

6 papers

NM_001369.3

p.R1454Q

c.4361G>A

9 papers

NM_001369.3

p.R1454*

c.4360C>T

1 paper

NM_001369.3

p.D1475N

c.4423G>A