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.G261G

c.783A>G

Surrounding Variants

1 paper

NM_005547.4

p.L263_K264ins10

c.787_791ins30

1 paper

NM_005547.4

p.Q269K

c.805C>A

1 paper

NM_005547.4

p.G271E

c.812G>A

1 paper

NM_005547.4

p.S246_E247ins10

c.738_739ins30

1 paper

NM_005547.4

p.M280L

c.838A>C

1 paper

NM_005547.4

p.M280L

c.838A>T

1 paper

NM_005547.4

p.E244insFs

c.730_731insG

1 paper

NM_005547.4

p.K284_L293del0

c.851_877del27

1 paper

NM_005547.4

p.Q239insFs

c.715_716insT

1 paper

NM_005547.4

p.Y285N

c.853T>A

1 paper

NM_005547.4

p.Q238_Q239insG

c.712_716ins3

1 paper

NM_005547.4

p.G251_G261ins3

c.753_782dup30