Varaico: Literature-Extracted Genetic Variants

Gene:CRYM

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
1–12 of 73 variants
17 papers
NM_001376256.1
p.K314T
c.941A>C
15 papers
NM_001376256.1
p.*315Y
c.945A>T
13 papers
NM_001376256.1
p.*315Y
c.945A>C
3 papers
NM_001376256.1
p.P51L
c.152C>T
3 papers
NM_001376256.1
p.Y247Y
c.741C>T
2 papers
NM_001376256.1
p.H16P
c.47A>C
2 papers
NM_001376256.1
p.S36R
c.106A>C
2 papers
NM_001376256.1
p.S36R
c.108C>G
2 papers
NM_001376256.1
p.S36R
c.108C>A
2 papers
NM_001376256.1
p.T86S
c.257C>G
2 papers
NM_001376256.1
p.R169C
c.505C>T
1 paper
NM_001376256.1
p.R3L
c.8G>T
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."