Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.G154S

CRYAB

662 papers

RefSeq Summary

Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystal...

Pfam Domains

Crystallinaa 1–56UCSCAlpha crystallin A chain, N terminal
HSP20aa 67–162UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

crystallin alpha B

HGNC Previous Symbol

CRYA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
54 papers
NM_001289808.2
p.G154S
c.460G>A
Surrounding Variants
2 papers
NM_001289808.2
p.G154D
c.461G>A
4 papers
NM_001289808.2
p.S153F
c.458C>T
2 papers
NM_001289808.2
p.S153C
c.458C>G
5 papers
NM_001289808.2
p.P155fs
c.463_464fs
1 paper
NM_001289808.2
p.P155S
c.463C>T
1 paper
NM_001289808.2
p.V152insFs
c.455_456insC
1 paper
NM_001289808.2
p.P155fs
c.463_464fs
2 papers
NM_001289808.2
p.E156K
c.466G>A
2 papers
NM_001289808.2
p.P155delFs
c.464_465delAG
37 papers
NM_001289808.2
p.Q151*
c.451C>T
4 papers
NM_001289808.2
p.R157C
c.469C>T
1 paper
NM_001289808.2
p.K150insFs
c.448dupA
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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."