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.V3909delFs

c.11726_11727delTA

Surrounding Variants

5 papers

NM_001270974.2

p.Q3905fs

c.11713_11714fs

5 papers

NM_001270974.2

p.Q3905fs

c.11713_11714fs

16 papers

NM_001270974.2

p.I3904delFs

c.11711delA

8 papers

NM_001270974.2

p.I3904fs

c.11710_11711fs

1 paper

NM_001270974.2

p.I3904delFs

c.11710delT

1 paper

NM_001270974.2

p.G3902W

c.11704G>T

14 papers

NM_001270974.2

p.V3899M

c.11695G>A

1 paper

NM_001270974.2

p.G3897V

c.11690G>T

1 paper

NM_001270974.2

p.E3893D

c.11679G>T

1 paper

NM_001270974.2

p.E3893D

c.11679G>C

1 paper

NM_001270974.2

p.E3884Q

c.11650G>C

1 paper

NM_001270974.2

p.D3880N

c.11638G>A