Varaico: Literature-Extracted Genetic Variants

Gene:CRYM
Variant:p.E100delFs

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.E100delFs
c.299_300delCT
Surrounding Variants
1 paper
NM_001376256.1
p.Q93Q
c.279G>A
2 papers
NM_001376256.1
p.T86S
c.257C>G
1 paper
NM_001376256.1
p.K75M
c.224A>T
1 paper
NM_001376256.1
p.T73fs
c.217_218fs
1 paper
NM_001376256.1
p.L59_A64delFs
c.176_191del16
1 paper
NM_001376256.1
p.A64T
c.190G>A
1 paper
NM_001376256.1
p.P63S
c.187C>T
1 paper
NM_001376256.1
p.P51P
c.153G>T
3 papers
NM_001376256.1
p.P51L
c.152C>T
1 paper
NM_001376256.1
p.P51S
c.151C>T
1 paper
NM_001376256.1
p.P45P
c.135C>A
2 papers
NM_001376256.1
p.S36R
c.108C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."