Varaico: Literature-Extracted Genetic Variants

STAB2

204 papers

RefSeq Summary

This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal g...

Pfam Domains

EGF_STAB1-2aa 150–196UCSCStabilin-1/2, EGF-like domain

EGF_3aa 242–275UCSCEGF domain

EGF_3aa 326–361UCSCEGF domain

Fasciclinaa 382–507UCSCFasciclin domain

Fasciclinaa 526–654UCSCFasciclin domain

EGF_STAB1-2aa 778–827UCSCStabilin-1/2, EGF-like domain

Gene Aliases

HGNC Name

stabilin 2

HGNC Alias Symbols

DKFZP434E0321; FELL; STAB-2; HARE; FEEL-2; SCARH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017564.10

p.K2148N

c.6444G>T

Surrounding Variants

1 paper

NM_017564.10

p.K2148N

c.6444G>C

1 paper

NM_017564.10

p.P2166S

c.6496C>T

1 paper

NM_017564.10

p.P2170S

c.6508C>T

1 paper

NM_017564.10

p.R2173S

c.6517C>A

1 paper

NM_017564.10

p.D2184N

c.6550G>A

1 paper

NM_017564.10

p.H2136Y

c.6406C>T

1 paper

NM_017564.10

p.G2133R

c.6397G>A

1 paper

NM_017564.10

p.G2133R

c.6397G>C

1 paper

NM_017564.10

p.I2124T

c.6371T>C

2 papers

NM_017564.10

p.E2123K

c.6367G>A

1 paper

NM_017564.10

p.E2123*

c.6367G>T

1 paper

NM_017564.10

p.H2119_S2120insG

c.6355_6359ins3