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

32 papers

NM_000394.4

p.R21L

c.62G>T

Surrounding Variants

14 papers

NM_000394.4

p.R21Q

c.62G>A

51 papers

NM_000394.4

p.R21W

c.61C>T

1 paper

NM_000394.4

p.S20delFs

c.60delC

1 paper

NM_000394.4

p.Y18F

c.53A>T

1 paper

NM_000394.4

p.Y18H

c.52T>C

1 paper

NM_000394.4

p.Q25_G28delFs

c.75_82del8

1 paper

NM_000394.4

p.F17S

c.50T>C

1 paper

NM_000394.4

p.G15V

c.44G>T

1 paper

NM_000394.4

p.G28S

c.82G>A

1 paper

NM_000394.4

p.R12H

c.35G>A

10 papers

NM_000394.4

p.R12L

c.35G>T

1 paper

NM_000394.4

p.R12delFs

c.36delC