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.R1284Splc

c.3851+263T>A

Surrounding Variants

1 paper

NM_013390.3

p.T1263M

c.3788C>T

1 paper

NM_013390.3

p.S1254N

c.3761G>A

1 paper

NM_013390.3

p.D1251A

c.3752A>C

1 paper

NM_013390.3

p.T1239S

c.3716C>G

1 paper

NM_013390.3

p.T1239S

c.3715A>T

2 papers

NM_013390.3

p.H1314P

c.3941A>C

1 paper

NM_013390.3

p.K1336E

c.4006A>G

1 paper

NM_013390.3

p.R1369H

c.4106G>A

1 paper

NM_013390.3

p.R1371T

c.4112G>C

1 paper

NM_013390.3

p.H1207R

c.3620A>G

1 paper

NM_013390.3

p.P1185P

c.3555G>A

1 paper

NM_013390.3

p.S1136I

c.3407G>T