Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.T84M

CRYBA4

99 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refract...

Pfam Domains

Crystallaa 13–97UCSCBeta/Gamma crystallin
Crystallaa 106–194UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A4

HGNC Previous Name

crystallin, beta A4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001886.3
p.T84M
c.251C>T
Surrounding Variants
1 paper
NM_001886.3
p.T84K
c.251C>A
1 paper
NM_001886.3
p.T84P
c.250A>C
1 paper
NM_001886.3
p.T84A
c.250A>G
1 paper
NM_001886.3
p.A85T
c.253G>A
1 paper
NM_001886.3
p.A85S
c.253G>T
1 paper
NM_001886.3
p.Y86S
c.257A>C
1 paper
NM_001886.3
p.Y86C
c.257A>G
1 paper
NM_001886.3
p.G82S
c.244G>A
1 paper
NM_001886.3
p.G81G
c.243C>A
1 paper
NM_001886.3
p.P87T
c.259C>A
1 paper
NM_001886.3
p.P87S
c.259C>T
1 paper
NM_001886.3
p.P87H
c.260C>A
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