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.R2374Q

c.7121G>A

Surrounding Variants

1 paper

NM_017564.10

p.G2373G

c.7119G>A

4 papers

NM_017564.10

p.E2377K

c.7129G>A

1 paper

NM_017564.10

p.L2391H

c.7172T>A

1 paper

NM_017564.10

p.G2394A

c.7181G>C

4 papers

NM_017564.10

p.L2401V

c.7201C>G

1 paper

NM_017564.10

p.L2401L

c.7203G>T

1 paper

NM_017564.10

p.K2404R

c.7211A>G

1 paper

NM_017564.10

p.P2416_T2417Splc

c.7248+582G>T

1 paper

NM_017564.10

p.E2330K

c.6988G>A

1 paper

NM_017564.10

p.P2416_T2417Splc

c.7249-417C>T

1 paper

NM_017564.10

p.T2417M

c.7250C>T

1 paper

NM_017564.10

p.A2426D

c.7277C>A