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.E330K

c.988G>A

Surrounding Variants

1 paper

NM_005547.4

p.Q332R

c.995A>G

1 paper

NM_005547.4

p.L333P

c.998T>C

1 paper

NM_005547.4

p.E338Q

c.1012G>C

1 paper

NM_005547.4

p.G321insFs

c.963dupG

1 paper

NM_005547.4

p.G341R

c.1021G>A

1 paper

NM_005547.4

p.L316_H325del0

c.946_975del30

1 paper

NM_005547.4

p.H315Y

c.943C>T

1 paper

NM_005547.4

p.E347V

c.1040A>T

1 paper

NM_005547.4

p.Q348H

c.1044G>T

1 paper

NM_005547.4

p.Q349E

c.1045C>G

1 paper

NM_005547.4

p.M310K

c.929T>A

1 paper

NM_005547.4

p.E307A

c.920A>C