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.G571S

c.1711G>A

Surrounding Variants

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.C640_T641insC

c.1918_1922ins3

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.M521_I522Splc

c.1563+9A>G

1 paper

NM_013390.3

p.D480G

c.1439A>G

1 paper

NM_013390.3

p.G478C

c.1432G>T

1 paper

NM_013390.3

p.V461F

c.1381G>T

1 paper

NM_013390.3

p.H458N

c.1372C>A

1 paper

NM_013390.3

p.G415*

c.1243G>T