Varaico: Literature-Extracted Genetic Variants

Gene:CRYGB
Variant:p.M1K

CRYGB

67 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 3–82UCSCBeta/Gamma crystallin
Crystallaa 90–171UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma B

HGNC Previous Symbol

CRYG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005210.4
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_005210.4
p.M1I
c.3G>T
1 paper
NM_005210.4
p.M1I
c.3G>A
4 papers
NM_005210.4
p.I4F
c.10A>T
1 paper
NM_005210.4
p.D9N
c.25G>A
1 paper
NM_005210.4
p.F12delFs
c.35_36delGA
1 paper
NM_005210.4
p.Q13del1
c.37_39delCTG
1 paper
NM_005210.4
p.R15C
c.43C>T
1 paper
NM_005210.4
p.R15H
c.44G>A
1 paper
NM_005210.4
p.S16_Y17insFs
c.48_49insTC
1 paper
NM_005210.4
p.E18V
c.53A>T
1 paper
NM_005210.4
p.P24H
c.71C>A
1 paper
NM_005210.4
p.N25D
c.73A>G
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