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

10 papers

NM_000394.4

p.R54L

c.161G>T

Surrounding Variants

19 papers

NM_000394.4

p.R54H

c.161G>A

13 papers

NM_000394.4

p.R54P

c.161G>C

48 papers

NM_000394.4

p.R54C

c.160C>T

1 paper

NM_000394.4

p.T55T

c.165C>A

2 papers

NM_000394.4

p.S59A

c.175T>G

1 paper

NM_000394.4

p.R49P

c.146G>C

70 papers

NM_000394.4

p.R49C

c.145C>T

1 paper

NM_000394.4

p.Y48S

c.143A>C

1 paper

NM_000394.4

p.Y48C

c.143A>G

1 paper

NM_000394.4

p.G60D

c.179G>A

1 paper

NM_000394.4

p.Y48H

c.142T>C

2 papers

NM_000394.4

p.Y48D

c.142T>G