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.R12H

c.35G>A

Surrounding Variants

10 papers

NM_000394.4

p.R12L

c.35G>T

1 paper

NM_000394.4

p.R12delFs

c.36delC

64 papers

NM_000394.4

p.R12C

c.34C>T

53 papers

NM_000394.4

p.W9*

c.27G>A

1 paper

NM_000394.4

p.W9C

c.27G>T

51 papers

NM_000394.4

p.W9*

c.26G>A

1 paper

NM_000394.4

p.G15V

c.44G>T

1 paper

NM_000394.4

p.W9R

c.25T>A

1 paper

NM_000394.4

p.P8_W9ins0

c.24_26dupCTG

1 paper

NM_000394.4

p.F17S

c.50T>C

1 paper

NM_000394.4

p.Q6H

c.18G>C

1 paper

NM_000394.4

p.Q6H

c.18G>T