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

1 paper

NM_000394.4

p.S173F

c.518C>T

Surrounding Variants

2 papers

NM_000394.4

p.*174Q

c.520T>C

2 papers

NM_000394.4

p.*174S

c.521A>C

1 paper

NM_000394.4

p.S172L

c.515C>T

1 paper

NM_000394.4

p.A170V

c.509C>T

1 paper

NM_000394.4

p.A170T

c.508G>A

2 papers

NM_000394.4

p.P167delFs

c.500delC

1 paper

NM_000394.4

p.R163G

c.487C>G

1 paper

NM_000394.4

p.R163W

c.487C>T

1 paper

NM_000394.4

p.V161G

c.482T>G

3 papers

NM_000394.4

p.V161M

c.481G>A

1 paper

NM_000394.4

p.P160R

c.479C>G

1 paper

NM_000394.4

p.A158P

c.472G>C