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

1–12 of 152 variants

117 papers

NM_000394.4

p.R116C

c.346C>T

70 papers

NM_000394.4

p.R49C

c.145C>T

64 papers

NM_000394.4

p.R12C

c.34C>T

53 papers

NM_000394.4

p.W9*

c.27G>A

52 papers

NM_000394.4

p.R116H

c.347G>A

51 papers

NM_000394.4

p.W9*

c.26G>A

51 papers

NM_000394.4

p.R21W

c.61C>T

49 papers

NM_000394.4

p.G98R

c.292G>A

48 papers

NM_000394.4

p.R54C

c.160C>T

48 papers

NM_000394.4

p.G98R

c.292G>C

32 papers

NM_000394.4

p.R21L

c.62G>T

23 papers

NM_000394.4

p.F71L

c.211T>C