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.R2087R

c.6261T>G

Surrounding Variants

1 paper

NM_001270974.2

p.R2087H

c.6260G>A

13 papers

NM_001270974.2

p.R2087C

c.6259C>T

1 paper

NM_001270974.2

p.I2095V

c.6283A>G

1 paper

NM_001270974.2

p.Q2097*

c.6289C>T

11 papers

NM_001270974.2

p.V2099M

c.6295G>A

1 paper

NM_001270974.2

p.A2074P

c.6220G>C

1 paper

NM_001270974.2

p.A2106Splc

c.6316+1G>A

1 paper

NM_001270974.2

p.L2065L

c.6195G>A

1 paper

NM_001270974.2

p.V2115insFs

c.6344_6345dupTC

1 paper

NM_001270974.2

p.R2120*

c.6358C>T

2 papers

NM_001270974.2

p.T2123delFs

c.6369delA

1 paper

NM_001270974.2

p.D2124fs

c.6370_6371fs