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.M1064I

c.3192G>A

Surrounding Variants

1 paper

NM_017564.10

p.M1064I

c.3192G>C

1 paper

NM_017564.10

p.M1064I

c.3192G>T

1 paper

NM_017564.10

p.Y1069F

c.3206A>T

1 paper

NM_017564.10

p.Y1069*

c.3207C>A

1 paper

NM_017564.10

p.Y1069*

c.3207C>G

1 paper

NM_017564.10

p.Q1037Q

c.3111A>G

1 paper

NM_017564.10

p.P1021P

c.3063C>G

1 paper

NM_017564.10

p.N1015_N1016Splc

c.3046-1G>A

1 paper

NM_017564.10

p.R1012L

c.3035G>T

1 paper

NM_017564.10

p.E1000*

c.2998G>T

1 paper

NM_017564.10

p.V999_E1000Splc

c.2998-2A>T

1 paper

NM_017564.10

p.N1113N

c.3339C>T