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

1 paper

NM_000394.4

p.K88R

c.263A>G

Surrounding Variants

1 paper

NM_000394.4

p.T86P

c.256A>C

1 paper

NM_000394.4

p.L85F

c.253C>T

1 paper

NM_000394.4

p.D92N

c.274G>A

1 paper

NM_000394.4

p.F93_V94del1

c.279_281delTGT

1 paper

NM_000394.4

p.E83K

c.247G>A

1 paper

NM_000394.4

p.P82P

c.246G>A

1 paper

NM_000394.4

p.I96_H97del2

c.286_290del6

1 paper

NM_000394.4

p.F80Y

c.239T>A

1 paper

NM_000394.4

p.H79H

c.237C>T

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