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.R1973W

c.5917C>T

Surrounding Variants

2 papers

NM_017564.10

p.A1996V

c.5987C>T

1 paper

NM_017564.10

p.F2005F

c.6015C>T

1 paper

NM_017564.10

p.P2011H

c.6032C>A

1 paper

NM_017564.10

p.P2011Splc

c.6031+1G>C

1 paper

NM_017564.10

p.G1956E

c.5867G>A

2 papers

NM_017564.10

p.G1956R

c.5866G>A

1 paper

NM_017564.10

p.G1956R

c.5866G>C

1 paper

NM_017564.10

p.F1955L

c.5865C>A

1 paper

NM_017564.10

p.F1955L

c.5865C>G

1 paper

NM_017564.10

p.F1955L

c.5863T>C

2 papers

NM_017564.10

p.G2018R

c.6052G>A

2 papers

NM_017564.10

p.G2018R

c.6052G>C