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

3 papers

NM_005547.4

p.D297E

c.891T>G

Surrounding Variants

1 paper

NM_005547.4

p.D297E

c.891T>A

1 paper

NM_005547.4

p.D297A

c.890A>C

1 paper

NM_005547.4

p.K294N

c.882G>T

1 paper

NM_005547.4

p.L293L

c.879G>A

1 paper

NM_005547.4

p.L293Q

c.878T>A

1 paper

NM_005547.4

p.E304*

c.910G>T

1 paper

NM_005547.4

p.E307A

c.920A>C

1 paper

NM_005547.4

p.E287D

c.861A>T

1 paper

NM_005547.4

p.Y285N

c.853T>A

1 paper

NM_005547.4

p.M310K

c.929T>A

1 paper

NM_005547.4

p.K284_L293del0

c.851_877del27

1 paper

NM_005547.4

p.H315Y

c.943C>T