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.E4185A

c.12554A>C

Surrounding Variants

1 paper

NM_001270974.2

p.I4193T

c.12578T>C

1 paper

NM_001270974.2

p.L4205F

c.12615G>T

1 paper

NM_001270974.2

p.L4205F

c.12615G>C

15 papers

NM_001270974.2

p.E4160Q

c.12478G>C

1 paper

NM_001270974.2

p.T4156T

c.12468A>T

1 paper

NM_001270974.2

p.F4155V

c.12463T>G

1 paper

NM_001270974.2

p.D4152N

c.12454G>A

3 papers

NM_001270974.2

p.R4148Splc

c.12444-1G>A

2 papers

NM_001270974.2

p.R4148Splc

c.12444-3C>G

1 paper

NM_001270974.2

p.E4217_V4218Splc

c.12652-1G>C

1 paper

NM_001270974.2

p.Q4241*

c.12721C>T

6 papers

NM_001270974.2

p.H4270Y

c.12808C>T