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

15 papers

NM_001270974.2

p.V3742I

c.11224G>A

Surrounding Variants

1 paper

NM_001270974.2

p.D3744N

c.11230G>A

15 papers

NM_001270974.2

p.A3739T

c.11215G>A

1 paper

NM_001270974.2

p.Q3736fs

c.11206_11207fs

1 paper

NM_001270974.2

p.Q3736delFs

c.11206delG

4 papers

NM_001270974.2

p.R3748C

c.11242C>T

1 paper

NM_001270974.2

p.R3748H

c.11243G>A

1 paper

NM_001270974.2

p.R3748delFs

c.11242delG

2 papers

NM_001270974.2

p.R3725W

c.11173C>T

1 paper

NM_001270974.2

p.M3713I

c.11139G>T

1 paper

NM_001270974.2

p.M3713I

c.11139G>C

1 paper

NM_001270974.2

p.M3713I

c.11139G>A

2 papers

NM_001270974.2

p.H3700H

c.11100C>T