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.Y481*

c.1443T>G

Surrounding Variants

1 paper

NM_001270974.2

p.Y481*

c.1443T>A

1 paper

NM_001270974.2

p.E482_A483Splc

c.1446+20G>A

1 paper

NM_001270974.2

p.D469N

c.1405G>A

1 paper

NM_001270974.2

p.G456G

c.1368C>T

1 paper

NM_001270974.2

p.E455V

c.1364A>T

1 paper

NM_001270974.2

p.I452I

c.1356C>A

4 papers

NM_001270974.2

p.R451P

c.1352G>C

NM_001198542.1

p.R478P

c.1433G>C

1 paper

NM_001270974.2

p.R451R

c.1351C>A

1 paper

NM_001270974.2

p.G443Splc

c.1328-12T>C

12 papers

NM_001270974.2

p.G489D

c.1466G>A

1 paper

NM_001270974.2

p.M497I

c.1491G>T

2 papers

NM_001270974.2

p.M497I

c.1491G>C