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.Q415*

c.1243C>T

Surrounding Variants

1 paper

NM_005547.4

p.V427E

c.1280T>A

1 paper

NM_005547.4

p.E435Q

c.1303G>C

1 paper

NM_005547.4

p.H442Y

c.1324C>T

1 paper

NM_005547.4

p.K378Q

c.1132A>C

1 paper

NM_005547.4

p.G458G

c.1374G>A

1 paper

NM_005547.4

p.H358delFs

c.1074delC

1 paper

NM_005547.4

p.L356delFs

c.1067_1068delTG

1 paper

NM_005547.4

p.Q349E

c.1045C>G

1 paper

NM_005547.4

p.Q348H

c.1044G>T

1 paper

NM_005547.4

p.E347V

c.1040A>T

1 paper

NM_005547.4

p.Q489_G498delFs

c.1465_1492del28

1 paper

NM_005547.4

p.G341R

c.1021G>A