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.Y4009H

c.12025T>C

Surrounding Variants

12 papers

NM_001270974.2

p.T4005A

c.12013A>G

1 paper

NM_001270974.2

p.I4018I

c.12054T>C

1 paper

NM_001270974.2

p.R3997Splc

c.11991-14T>C

13 papers

NM_001270974.2

p.A4026T

c.12076G>A

1 paper

NM_001270974.2

p.F4027L

c.12079T>C

1 paper

NM_001270974.2

p.F4027L

c.12081C>G

1 paper

NM_001270974.2

p.F4027L

c.12081C>A

1 paper

NM_001270974.2

p.C4029W

c.12087C>G

1 paper

NM_001270974.2

p.E4039A

c.12116A>C

1 paper

NM_001270974.2

p.K4041E

c.12121A>G

1 paper

NM_001270974.2

p.A4042T

c.12124G>A

1 paper

NM_001270974.2

p.E4043K

c.12127G>A