Varaico: Literature-Extracted Genetic Variants

IVL

112 papers

RefSeq Summary

Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I li...

Pfam Domains

Involucrin_Naa 1–69UCSCInvolucrin of squamous epithelia N-terminus

Involucrinaa 101–109UCSCInvolucrin repeat

Involucrinaa 156–175UCSCInvolucrin repeat

Involucrinaa 247–265UCSCInvolucrin repeat

Involucrinaa 266–285UCSCInvolucrin repeat

Involucrinaa 306–325UCSCInvolucrin repeat

Gene Aliases

HGNC Name

involucrin

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005547.4

p.P196P

c.588A>T

Surrounding Variants

1 paper

NM_005547.4

p.P196S

c.586C>T

1 paper

NM_005547.4

p.L193R

c.578T>G

1 paper

NM_005547.4

p.L193insFs

c.578_579insG

1 paper

NM_005547.4

p.E200insFs

c.599_600insG

1 paper

NM_005547.4

p.G191V

c.572G>T

1 paper

NM_005547.4

p.L205H

c.614T>A

1 paper

NM_005547.4

p.Q208E

c.622C>G

1 paper

NM_005547.4

p.Q182L

c.545A>T

1 paper

NM_005547.4

p.E180K

c.538G>A

1 paper

NM_005547.4

p.L215V

c.643C>G

1 paper

NM_005547.4

p.L215H

c.644T>A

1 paper

NM_005547.4

p.E177A

c.530A>C