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

14 papers

NM_001270974.2

p.N724D

c.2170A>G

Surrounding Variants

3 papers

NM_001270974.2

p.D726G

c.2177A>G

1 paper

NM_001270974.2

p.A723_D726del4

c.2167_2177del12

1 paper

NM_001270974.2

p.K718delFs

c.2154delT

1 paper

NM_001270974.2

p.L728delFs

c.2184delG

1 paper

NM_001270974.2

p.G730delFs

c.2190delT

1 paper

NM_001270974.2

p.Y732fs

c.2194_2195fs

1 paper

NM_001270974.2

p.Y732insFs

c.2194dupT

1 paper

NM_001270974.2

p.P715L

c.2144C>T

1 paper

NM_001270974.2

p.Y732insFs

c.2196dupT

1 paper

NM_001270974.2

p.F711insFs

c.2133dupC

1 paper

NM_001270974.2

p.L712L

c.2134C>T

2 papers

NM_001198542.1

p.H736P

c.2207A>C