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.A318S

c.952G>T

Surrounding Variants

1 paper

NM_013390.3

p.Q324delFs

c.972delT

3 papers

NM_013390.3

p.I327M

c.981C>G

1 paper

NM_013390.3

p.R308W

c.922C>T

1 paper

NM_013390.3

p.M329I

c.987G>A

2 papers

NM_013390.3

p.D305N

c.913G>A

1 paper

NM_013390.3

p.E337*

c.1009G>T

2 papers

NM_013390.3

p.R291H

c.872G>A

1 paper

NM_013390.3

p.R245K

c.734G>A

1 paper

NM_013390.3

p.T229T

c.687A>T

1 paper

NM_013390.3

p.G227G

c.681C>A

1 paper

NM_013390.3

p.V224insFs

c.672dupG

1 paper

NM_013390.3

p.F217insFs

c.650_651insC