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.A2059D

c.6176C>A

Surrounding Variants

1 paper

NM_017564.10

p.T2052M

c.6155C>T

3 papers

NM_017564.10

p.P2039T

c.6115C>A

1 paper

NM_017564.10

p.T2034M

c.6101C>T

2 papers

NM_017564.10

p.D2021N

c.6061G>A

1 paper

NM_017564.10

p.C2020C

c.6060C>T

2 papers

NM_017564.10

p.G2018R

c.6052G>A

2 papers

NM_017564.10

p.G2018R

c.6052G>C

1 paper

NM_017564.10

p.C2086W

c.6258C>G

1 paper

NM_017564.10

p.G2116W

c.6346G>T

1 paper

NM_017564.10

p.D2117Y

c.6349G>T

1 paper

NM_017564.10

p.G2118R

c.6352G>A

1 paper

NM_017564.10

p.G2118R

c.6352G>C