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.V64G

c.191T>G

Surrounding Variants

1 paper

NM_000394.4

p.V64A

c.191T>C

1 paper

NM_000394.4

p.R65*

c.193C>T

4 papers

NM_000394.4

p.R65Q

c.194G>A

1 paper

NM_000394.4

p.D67G

c.200A>G

1 paper

NM_000394.4

p.K70Q

c.208A>C

23 papers

NM_000394.4

p.F71L

c.211T>C

23 papers

NM_000394.4

p.F71L

c.213C>A

23 papers

NM_000394.4

p.F71L

c.213C>G

1 paper

NM_000394.4

p.V72I

c.214G>A

1 paper

NM_000394.4

p.F74L

c.220T>C

1 paper

NM_000394.4

p.L75_P82del8

c.223_245del24

2 papers

NM_000394.4

p.K78R

c.233A>G