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

1–12 of 77 variants

3 papers

NM_013390.3

p.A147P

c.439G>C

3 papers

NM_013390.3

p.I327M

c.981C>G

2 papers

NM_013390.3

p.F217insFs

c.649_650insC

2 papers

NM_013390.3

p.R291H

c.872G>A

2 papers

NM_013390.3

p.D305N

c.913G>A

2 papers

NM_013390.3

p.G649_N650insC

c.1945_1949ins3

2 papers

NM_013390.3

p.H1314P

c.3941A>C

1 paper

NM_013390.3

p.G8G

c.24A>G

1 paper

NM_013390.3

p.F13insFs

c.39dupC

1 paper

NM_013390.3

p.S21C

c.61A>T

1 paper

NM_013390.3

p.V33A

c.98T>C

1 paper

NM_013390.3

p.R36S

c.106C>A