Varaico: Literature-Extracted Genetic Variants

CEMIP2

89 papers

RefSeq Summary

This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that c...

Pfam Domains

G8aa 121–244UCSCG8 domain

ILEIaa 265–356UCSCInterleukin-like EMT inducer

CEMIP_beta-helaa 515–729UCSCCEMIP beta-helix

CEMIP_Xaa 993–1174UCSCCEMIP domain X

ILEIaa 1243–1329UCSCInterleukin-like EMT inducer

Gene Aliases

HGNC Name

cell migration inducing hyaluronidase 2

HGNC Previous Name

transmembrane protein 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013390.3

p.G701V

c.2102G>T

Surrounding Variants

1 paper

NM_013390.3

p.P695P

c.2085A>G

1 paper

NM_013390.3

p.L710V

c.2128C>G

1 paper

NM_013390.3

p.N718N

c.2154C>T

1 paper

NM_013390.3

p.A727V

c.2180C>T

1 paper

NM_013390.3

p.I731T

c.2192T>C

2 papers

NM_013390.3

p.G649_N650insC

c.1945_1949ins3

1 paper

NM_001135820.2

p.G586R

c.1756G>C

1 paper

NM_001135820.2

p.G586R

c.1756G>A

1 paper

NM_013390.3

p.C640_T641insC

c.1918_1922ins3

1 paper

NM_013390.3

p.G586R

c.1756G>C

NM_001135820.2

p.G523R

c.1567G>C

1 paper

NM_001135820.2

p.G523R

c.1567G>A

NM_013390.3

p.G586R

c.1756G>A

1 paper

NM_013390.3

p.G571S

c.1711G>A