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.R112H

c.335G>A

Surrounding Variants

1 paper

NM_000394.4

p.R112L

c.335G>T

4 papers

NM_000394.4

p.E113K

c.337G>A

1 paper

NM_000394.4

p.I110delins

c.329delinsT

1 paper

NM_000394.4

p.Y109*

c.327C>A

1 paper

NM_000394.4

p.H115N

c.343C>A

1 paper

NM_000394.4

p.Y109*

c.327C>G

1 paper

NM_000394.4

p.I110Fs

c.328_329delinsTFs

3 papers

NM_000394.4

p.H115_Y118del0

c.344_352del9

4 papers

NM_000394.4

p.R117del1

c.349_350delCGC

1 paper

NM_000394.4

p.H115H

c.345C>T

1 paper

NM_000394.4

p.G108G

c.324C>A

2 papers

NM_000394.4

p.R116G

c.346C>G