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.Q2223_L2224Splc

c.6669+1G>A

Surrounding Variants

1 paper

NM_001270974.2

p.R2221Q

c.6662G>A

1 paper

NM_001270974.2

p.R2221W

c.6661C>T

1 paper

NM_001270974.2

p.Q2223_L2224Splc

c.6669+20A>G

1 paper

NM_001270974.2

p.V2215M

c.6643G>A

1 paper

NM_001270974.2

p.D2211N

c.6631G>A

1 paper

NM_001270974.2

p.S2206N

c.6617G>A

1 paper

NM_001270974.2

p.G2199R

c.6595G>C

1 paper

NM_001270974.2

p.G2199R

c.6595G>A

1 paper

NM_001270974.2

p.P2196fs

c.6586_6587fs

2 papers

NM_001270974.2

p.S2195fs

c.6583_6584fs

1 paper

NM_001270974.2

p.S2193_S2195delFs

c.6578_6584del7

2 papers

NM_001270974.2

p.S2195insFs

c.6584_6585ins8