Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.P174L

CRYBA1

134 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 32–116UCSCBeta/Gamma crystallin
Crystallaa 125–213UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A1

HGNC Previous Symbol

CRYB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005208.5
p.P174L
c.521C>T
Surrounding Variants
1 paper
NM_005208.5
p.Q172H
c.516A>C
1 paper
NM_005208.5
p.Y176*
c.528T>A
1 paper
NM_005208.5
p.Y176*
c.528T>G
1 paper
NM_005208.5
p.Q180P
c.539A>C
1 paper
NM_005208.5
p.I182F
c.544A>T
1 paper
NM_005208.5
p.E184_D186Fs
c.552_557delinsGGAGGFs
2 papers
NM_005208.5
p.C185fs
c.553_554fs
1 paper
NM_005208.5
p.H187Y
c.559C>T
1 paper
NM_005208.5
p.Y192C
c.575A>G
1 paper
NM_005208.5
p.W195_R196del2
c.583_587del6
2 papers
NM_005208.5
p.E197delFs
c.590_591delAG
2 papers
NM_005208.5
p.R196_E197delFs
c.588_591del4
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