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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRYZL1

Variant:p.K48_L49Splc

CRYZL1

19 papers

RefSeq Summary

This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternativel...

Pfam Domains

ADH_Naa 29–142UCSCAlcohol dehydrogenase GroES-like domain

Gene Aliases

HGNC Name

crystallin zeta like 1

HGNC Alias Symbols

QOH-1; 4P11; Fy-4; FERRY4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr21:33624682 C>T

NM_145858.3

p.K48_L49Splc

c.144+1G>A

ADH_N

exact variant not in gnomAD9 overlapping SVs

Surrounding Variants

1 paper

chr21:33624696 T>C

NM_145858.3

p.Q44R

c.131A>G

ADH_N

exact variant not in gnomAD9 overlapping SVs

3 papers

chr21:33624712 C>T

NM_145858.3

p.A39T

c.115G>A

ADH_N

Exome: 2.5% (AC=36258, hom=542)Genome: 1.6% (AC=2457, hom=31)9 overlapping SVs

1 paper

chr21:33622054 C>A

NM_145858.3

p.M53I

c.159G>T

ADH_N

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:33622054 C>G

NM_145858.3

p.M53I

c.159G>C

ADH_N

exact variant not in gnomAD7 overlapping SVs

1 paper

chr21:33622054 C>T

NM_145858.3

p.M53I

c.159G>A

ADH_N

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

3 papers

chr21:33631513 T>A

NM_145858.3

p.E13D

c.39A>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

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