Varaico: Literature-Extracted Genetic Variants

Gene:CRYM
Variant:p.N168S

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.N168S
c.503A>G
Surrounding Variants
2 papers
NM_001376256.1
p.R169C
c.505C>T
1 paper
NM_001376256.1
p.R165R
c.495G>A
1 paper
NM_001376256.1
p.E172V
c.515A>T
1 paper
NM_001376256.1
p.E175*
c.523G>T
1 paper
NM_001376256.1
p.E175delins
c.523_524delinsTT
1 paper
NM_001376256.1
p.E163_V164Splc
c.490-12C>T
1 paper
NM_001376256.1
p.R186W
c.556C>T
1 paper
NM_001376256.1
p.S190L
c.569C>T
1 paper
NM_001376256.1
p.K176_V191del16
c.526_572del48
1 paper
NM_001376256.1
p.A194T
c.580G>A
1 paper
NM_001376256.1
p.A198T
c.592G>A
1 paper
NM_001376256.1
p.A198G
c.593C>G
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