Varaico: Literature-Extracted Genetic Variants

Gene:CRYM
Variant:p.*315Y

CRYM

69 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of v...

Pfam Domains

OCD_Mu_crystallaa 3–314UCSCOrnithine cyclodeaminase/mu-crystallin family

Gene Aliases

HGNC Name

crystallin mu

HGNC Alias Symbol

DFNA40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
13 papers
NM_001376256.1
p.*315Y
c.945A>C
Surrounding Variants
15 papers
NM_001376256.1
p.*315Y
c.945A>T
1 paper
NM_001376256.1
p.*315Q
c.943T>C
17 papers
NM_001376256.1
p.K314T
c.941A>C
1 paper
NM_001376256.1
p.I306T
c.917T>C
1 paper
NM_001376256.1
p.A303T
c.907G>A
1 paper
NM_001376256.1
p.A302V
c.905C>T
1 paper
NM_001376256.1
p.D299_T300del2
c.895_899del6
1 paper
NM_001376256.1
p.G294R
c.880G>C
1 paper
NM_001376256.1
p.G294R
c.880G>A
1 paper
NM_001376256.1
p.G294R
c.880G>A
1 paper
NM_001376256.1
p.T288T
c.864C>G
1 paper
NM_001376256.1
p.H283H
c.849C>T
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