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

1–12 of 101 variants

4 papers

NM_005547.4

p.P236S

c.706C>T

3 papers

NM_005547.4

p.D297E

c.891T>G

2 papers

NM_005547.4

p.L225H

c.674T>A

2 papers

NM_005547.4

p.E227Q

c.679G>C

2 papers

NM_005547.4

p.Q556*

c.1666C>T

1 paper

NM_005547.4

p.M1L

c.1A>C

1 paper

NM_005547.4

p.M1V

c.1A>G

1 paper

NM_005547.4

p.M1L

c.1A>T

1 paper

NM_005547.4

p.H5Q

c.15C>A

1 paper

NM_005547.4

p.Q36L

c.107A>T

1 paper

NM_005547.4

p.E60D

c.180G>T

1 paper

NM_005547.4

p.K62N

c.186G>C