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

3 papers

NM_000394.4

p.R119C

c.355C>T

Surrounding Variants

6 papers

NM_000394.4

p.R119H

c.356G>A

8 papers

NM_000394.4

p.Y118D

c.352T>G

8 papers

NM_000394.4

p.R117H

c.350G>A

5 papers

NM_000394.4

p.Y118del1

c.352_353delTAC

5 papers

NM_000394.4

p.R117_Y118del1

c.350_352delGCT

1 paper

NM_000394.4

p.R116R

c.348C>T

1 paper

NM_000394.4

p.P121L

c.362C>T

52 papers

NM_000394.4

p.R116H

c.347G>A

2 papers

NM_000394.4

p.R116G

c.346C>G

117 papers

NM_000394.4

p.R116C

c.346C>T

1 paper

NM_000394.4

p.H115H

c.345C>T

4 papers

NM_000394.4

p.R117del1

c.349_350delCGC