Varaico: Literature-Extracted Genetic Variants

HYDIN

389 papers

RefSeq Summary

This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of ce...

Pfam Domains

HYDIN_VesB_CFA65-like_Igaa 198–291UCSCHYDIN/CFA65/VesB-like, Ig-like domain

ASHaa 513–613UCSCAbnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

Hydin_ADKaa 2038–2236UCSCHydin Adenylate kinase-like domain

HYDIN_VesB_CFA65-like_Igaa 4309–4411UCSCHYDIN/CFA65/VesB-like, Ig-like domain

Gene Aliases

HGNC Name

HYDIN axonemal central pair apparatus protein

HGNC Alias Symbols

DKFZp434D0513; KIAA1864; PPP1R31; CILD5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001270974.2

p.E3824Splc

c.11472-2A>G

Surrounding Variants

1 paper

NM_001270974.2

p.R3832H

c.11495G>A

1 paper

NM_001270974.2

p.V3833A

c.11498T>C

13 papers

NM_001270974.2

p.V3840L

c.11518G>C

1 paper

NM_001270974.2

p.G3857Splc

c.11569+13G>A

1 paper

NM_001270974.2

p.G3867R

c.11599G>C

1 paper

NM_001270974.2

p.T3868A

c.11602A>G

6 papers

NM_001270974.2

p.M3869R

c.11606T>G

2 papers

NM_001270974.2

p.H3870H

c.11610T>C

1 paper

NM_001270974.2

p.T3878P

c.11632A>C

1 paper

NM_001270974.2

p.M3879I

c.11637G>T

1 paper

NM_001270974.2

p.M3879I

c.11637G>C

1 paper

NM_001270974.2

p.M3879I

c.11637G>A