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.Q147delFs

c.440delA

Surrounding Variants

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.Q147fs

c.439_440fs

4 papers

NM_000394.4

p.T148A

c.442A>G

1 paper

NM_000394.4

p.P144P

c.432C>G

1 paper

NM_000394.4

p.L150insFs

c.448dupC

1 paper

NM_000394.4

p.G149V

c.446G>T

1 paper

NM_000394.4

p.L150P

c.449T>C

1 paper

NM_000394.4

p.A152delFs

c.454delG

3 papers

NM_000394.4

p.A152del1

c.454_455delGCC

1 paper

NM_000394.4

p.A152D

c.455C>A

1 paper

NM_000394.4

p.A152A

c.456C>T