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

3 papers

NM_001270974.2

p.F510delFs

c.1529delA

Surrounding Variants

1 paper

NM_001270974.2

p.F510fs

c.1528_1529fs

1 paper

NM_001270974.2

p.F508del1

c.1522_1523delAAA

1 paper

NM_001270974.2

p.M497I

c.1491G>T

2 papers

NM_001270974.2

p.M497I

c.1491G>C

1 paper

NM_001270974.2

p.M497I

c.1491G>A

12 papers

NM_001270974.2

p.G489D

c.1466G>A

1 paper

NM_001270974.2

p.E538K

c.1612G>A

1 paper

NM_001270974.2

p.R557T

c.1670G>C

1 paper

NM_001270974.2

p.R557Splc

c.1670+2T>A

1 paper

NM_001270974.2

p.E482_A483Splc

c.1446+20G>A

1 paper

NM_001270974.2

p.Y481*

c.1443T>G

1 paper

NM_001270974.2

p.Y481*

c.1443T>A