Varaico: Literature-Extracted Genetic Variants

Gene:CCNH
Variant:p.E49G

CCNH

325 papers

RefSeq Summary

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function ...

Pfam Domains

Cyclin_Naa 47–159UCSCCyclin, N-terminal domain
Cyclin_C_2aa 162–260UCSCCyclin C-terminal domain

Gene Aliases

HGNC Name

cyclin H

HGNC Alias Symbols

p34; p37; CycH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001239.4
p.E49G
c.146A>G
Surrounding Variants
1 paper
NM_001239.4
p.L48F
c.142C>T
1 paper
NM_001239.4
p.L48insFs
c.142_143ins44
1 paper
NM_001239.4
p.P50_H51delFs
c.150_153del4
1 paper
NM_001239.4
p.E53D
c.159A>C
1 paper
NM_001239.4
p.M54L
c.160A>T
3 papers
NM_001239.4
p.M54V
c.160A>G
1 paper
NM_001239.4
p.E52del1
c.154_155delTTC
1 paper
NM_001239.4
p.M54T
c.161T>C
1 paper
NM_001239.4
p.E53_M54delFs
c.157_160del4
1 paper
NM_001239.4
p.D44Y
c.130G>T
1 paper
NM_001239.4
p.D44H
c.130G>C
1 paper
NM_001239.4
p.D44N
c.130G>A
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