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

4 papers

NM_000394.4

p.L139P

c.416T>C

Surrounding Variants

3 papers

NM_000394.4

p.M138I

c.414G>A

1 paper

NM_000394.4

p.F141insFs

c.422dupT

1 paper

NM_000394.4

p.D136N

c.406G>A

1 paper

NM_000394.4

p.A135V

c.404C>T

2 papers

NM_000394.4

p.A135S

c.403G>T

1 paper

NM_000394.4

p.P144P

c.432C>G

1 paper

NM_000394.4

p.S132insFs

c.396dupC

1 paper

NM_000394.4

p.Q147fs

c.439_440fs

1 paper

NM_000394.4

p.Q147E

c.439C>G

2 papers

NM_000394.4

p.Q147delFs

c.440delA

2 papers

NM_000394.4

p.Q147fs

c.439_440fs

1 paper

NM_000394.4

p.C131F

c.392G>T