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

1–12 of 805 variants

16 papers

NM_001270974.2

p.Q2242R

c.6725A>G

16 papers

NM_001270974.2

p.I3904delFs

c.11711delA

15 papers

NM_001270974.2

p.A3739T

c.11215G>A

15 papers

NM_001270974.2

p.V3742I

c.11224G>A

15 papers

NM_001270974.2

p.E4160Q

c.12478G>C

14 papers

NM_001270974.2

p.N724D

c.2170A>G

14 papers

NM_001270974.2

p.R2298G

c.6892C>G

14 papers

NM_001270974.2

p.V3899M

c.11695G>A

13 papers

NM_001270974.2

p.R2087C

c.6259C>T

13 papers

NM_001270974.2

p.V3840L

c.11518G>C

13 papers

NM_001270974.2

p.A4026T

c.12076G>A

12 papers

NM_001270974.2

p.G489D

c.1466G>A