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.Q1785*

c.5353C>T

Surrounding Variants

1 paper

NM_017564.10

p.L1811S

c.5432T>C

1 paper

NM_017564.10

p.R1817Q

c.5450G>A

1 paper

NM_017564.10

p.T1745K

c.5234C>A

1 paper

NM_017564.10

p.L1822S

c.5465T>C

1 paper

NM_017564.10

p.G1847D

c.5540G>A

1 paper

NM_017564.10

p.I1850_G1851Splc

c.5550+1G>A

1 paper

NM_017564.10

p.P1726L

c.5177C>T

1 paper

NM_017564.10

p.D1721N

c.5161G>A

3 papers

NM_017564.10

p.E1686Q

c.5056G>C

1 paper

NM_017564.10

p.S1682F

c.5045C>T

2 papers

NM_017564.10

p.A1680P

c.5038G>C

2 papers

NM_017564.10

p.A1665T

c.4993G>A