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.P226insFs

c.676_677insC

Surrounding Variants

2 papers

NM_005547.4

p.L225H

c.674T>A

1 paper

NM_005547.4

p.P226S

c.676C>T

1 paper

NM_005547.4

p.P226L

c.677C>T

1 paper

NM_005547.4

p.P226P

c.678A>T

1 paper

NM_005547.4

p.E224K

c.670G>A

2 papers

NM_005547.4

p.E227Q

c.679G>C

1 paper

NM_005547.4

p.E220V

c.659A>T

1 paper

NM_005547.4

p.E220K

c.658G>A

1 paper

NM_005547.4

p.Q218E

c.652C>G

1 paper

NM_005547.4

p.L215H

c.644T>A

1 paper

NM_005547.4

p.L215V

c.643C>G

4 papers

NM_005547.4

p.P236S

c.706C>T