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.D2308D

c.6924T>C

Surrounding Variants

1 paper

NM_001270974.2

p.A2309V

c.6926C>T

1 paper

NM_001270974.2

p.L2310P

c.6929T>C

8 papers

NM_001270974.2

p.E2306G

c.6917A>G

1 paper

NM_001270974.2

p.E2314*

c.6940G>T

14 papers

NM_001270974.2

p.R2298G

c.6892C>G

1 paper

NM_001270974.2

p.D2319G

c.6956A>G

1 paper

NM_001270974.2

p.G2321_Q2323delFs

c.6962_6968del7

1 paper

NM_001270974.2

p.R2286_K2287del2

c.6856_6860del6

1 paper

NM_001270974.2

p.K2345E

c.7033A>G

1 paper

NM_001270974.2

p.Q2347*

c.7039C>T

1 paper

NM_001270974.2

p.R2352*

c.7054C>T

1 paper

NM_001270974.2

p.R2361Q

c.7082G>A