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.E60D

c.180G>T

Surrounding Variants

1 paper

NM_005547.4

p.K62N

c.186G>C

1 paper

NM_005547.4

p.K62N

c.186G>T

1 paper

NM_005547.4

p.G69R

c.205G>A

1 paper

NM_005547.4

p.G69R

c.205G>C

1 paper

NM_005547.4

p.Q79R

c.236A>G

1 paper

NM_005547.4

p.K80insFs

c.238_239insG

1 paper

NM_005547.4

p.K80R

c.239A>G

1 paper

NM_005547.4

p.E84G

c.251A>G

1 paper

NM_005547.4

p.Q36L

c.107A>T

1 paper

NM_005547.4

p.E86Q

c.256G>C

1 paper

NM_005547.4

p.Q90*

c.268C>T

1 paper

NM_005547.4

p.E97K

c.289G>A