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

2 papers

NM_017564.10

p.R581W

c.1741C>T

Surrounding Variants

1 paper

NM_017564.10

p.L583F

c.1747C>T

1 paper

NM_017564.10

p.E585D

c.1755A>C

1 paper

NM_017564.10

p.E585D

c.1755A>T

1 paper

NM_017564.10

p.Q596K

c.1786C>A

1 paper

NM_017564.10

p.G643S

c.1927G>A

1 paper

NM_017564.10

p.R644Q

c.1931G>A

1 paper

NM_017564.10

p.L661L

c.1983G>A

1 paper

NM_017564.10

p.R664*

c.1990C>T

1 paper

NM_017564.10

p.I555V

c.1663A>G

1 paper

NM_017564.10

p.K530R

c.1589A>G

1 paper

NM_017564.10

p.E517_Q518Splc

c.1551+3G>C

6 papers

NM_017564.10

p.P510H

c.1529C>A