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.M1K

c.2T>A

Surrounding Variants

1 paper

NM_000394.4

p.M1T

c.2T>C

1 paper

NM_000394.4

p.M1L

c.1A>C

1 paper

NM_000394.4

p.M1V

c.1A>G

1 paper

NM_000394.4

p.M1L

c.1A>T

1 paper

NM_000394.4

p.D2Y

c.4G>T

4 papers

NM_000394.4

p.D2D

c.6C>T

1 paper

NM_000394.4

p.T4N

c.11C>A

1 paper

NM_000394.4

p.I5delFs

c.15delC

1 paper

NM_000394.4

p.Q6H

c.18G>C

1 paper

NM_000394.4

p.Q6H

c.18G>T

1 paper

NM_000394.4

p.P8_W9ins0

c.24_26dupCTG

1 paper

NM_000394.4

p.W9R

c.25T>A