Varaico: Literature-Extracted Genetic Variants

Gene:CRYM
Variant:p.T288T

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
1 paper
NM_001376256.1
p.T288T
c.864C>G
Surrounding Variants
1 paper
NM_001376256.1
p.H283H
c.849C>T
1 paper
NM_001376256.1
p.G294R
c.880G>A
1 paper
NM_001376256.1
p.E271Q
c.811G>C
1 paper
NM_001376256.1
p.F269F
c.807T>C
1 paper
NM_001376256.1
p.A254V
c.761C>T
3 papers
NM_001376256.1
p.Y247Y
c.741C>T
1 paper
NM_001376256.1
p.L240F
c.718C>T
1 paper
NM_001376256.1
p.W233L
c.698G>T
1 paper
NM_001888.5
p.A225Splc
c.674-2A>G
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.D299_T300del2
c.895_899del6
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