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.F32I

c.94T>A

Surrounding Variants

1 paper

NM_000394.4

p.F32_E33delFs

c.96_97delTG

2 papers

NM_000394.4

p.L31P

c.92T>C

1 paper

NM_000394.4

p.G28S

c.82G>A

1 paper

NM_000394.4

p.L37Q

c.110T>A

1 paper

NM_000394.4

p.Q25_G28delFs

c.75_82del8

2 papers

NM_000394.4

p.F39_L40del1

c.116_118delTCC

1 paper

NM_000394.4

p.L40_S41del2

c.118_122del6

14 papers

NM_000394.4

p.R21Q

c.62G>A

32 papers

NM_000394.4

p.R21L

c.62G>T

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.I44N

c.131T>A