Varaico: Literature-Extracted Genetic Variants

CRYAA

321 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 1–54UCSCAlpha crystallin A chain, N terminal

HSP20aa 63–162UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

crystallin alpha A

HGNC Previous Symbol

CRYA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000394.4

p.R103C

c.307C>T

Surrounding Variants

2 papers

NM_000394.4

p.R103_Q104insFs

c.309_310insA

4 papers

NM_000394.4

p.N101D

c.301A>G

1 paper

NM_000394.4

p.Q104_D105Splc

c.312+4A>G

49 papers

NM_000394.4

p.G98R

c.292G>A

48 papers

NM_000394.4

p.G98R

c.292G>C

1 paper

NM_000394.4

p.H97Q

c.291C>A

1 paper

NM_000394.4

p.H97Q

c.291C>G

1 paper

NM_000394.4

p.H97H

c.291C>T

1 paper

NM_000394.4

p.I96_H97del2

c.286_290del6

1 paper

NM_000394.4

p.F93_V94del1

c.279_281delTGT

1 paper

NM_000394.4

p.Q104_D105Splc

c.312+27G>C

1 paper

NM_000394.4

p.D92N

c.274G>A