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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPRR2E

Variant:p.S60A

SPRR2E

16 papers

RefSeq Summary

This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a ...

Pfam Domains

SPRR2aa 2–69UCSCSmall proline-rich 2

Gene Aliases

HGNC Name

small proline rich protein 2E

HGNC Previous Name

small proline-rich protein 2E

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr1:153093574 A>C

NM_001024209.4

p.S60A

c.178T>G

SPRR2

Exome: 0.2% (AC=3207, hom=10)Genome: 0.1% (AC=213, hom=0)240 overlapping SVs

Surrounding Variants

5 papers

chr1:153093591 C>T

NM_001024209.4

p.C54Y

c.161G>A

SPRR2

Exome: 0.0% (AC=415, hom=0)Genome: 0.4% (AC=483, hom=0)240 overlapping SVs

1 paper

chr1:153093596 T>A

NM_001024209.4

p.Q52H

c.156A>T

SPRR2

Exome: 0.0% (AC=1, hom=0)Genome: n/a240 overlapping SVs

2 papers

chr1:153093596 T>C

NM_001024209.4

p.Q52Q

c.156A>G

SPRR2

Exome: 7.8% (AC=104593, hom=10197)Genome: 15.1% (AC=18248, hom=1629)240 overlapping SVs

1 paper

chr1:153093596 T>G

NM_001024209.4

p.Q52H

c.156A>C

SPRR2

exact variant not in gnomAD240 overlapping SVs

2 papers

chr1:153093622 G>A

NM_001024209.4

p.P44S

c.130C>T

SPRR2

Exome: 0.4% (AC=6014, hom=119)Genome: 1.0% (AC=1540, hom=6)240 overlapping SVs

3 papers

chr1:153093637 G>A

NM_001024209.4

p.P39S

c.115C>T

SPRR2

Exome: 0.5% (AC=7739, hom=121)Genome: 1.0% (AC=1544, hom=6)240 overlapping SVs

1 paper

chr1:153093712 G>T

NM_001024209.4

p.P14T

c.40C>A

SPRR2

exact variant not in gnomAD240 overlapping SVs

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