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.G8G

c.24A>G

Surrounding Variants

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

1 paper

NM_013390.3

p.A61T

c.181G>A

1 paper

NM_013390.3

p.Q67R

c.200A>G

1 paper

NM_013390.3

p.A87P

c.259G>C

1 paper

NM_013390.3

p.K106delFs

c.318delT

1 paper

NM_013390.3

p.N122I

c.365A>T

1 paper

NM_013390.3

p.N122S

c.365A>G

1 paper

NM_013390.3

p.W123insFs

c.369dupG

1 paper

NM_013390.3

p.P125L

c.374C>T