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

1–12 of 261 variants

6 papers

NM_017564.10

p.P510H

c.1529C>A

4 papers

NM_017564.10

p.E2377K

c.7129G>A

4 papers

NM_017564.10

p.L2401V

c.7201C>G

3 papers

NM_017564.10

p.G785E

c.2354G>A

3 papers

NM_017564.10

p.Y1172H

c.3514T>C

3 papers

NM_017564.10

p.E1686Q

c.5056G>C

3 papers

NM_017564.10

p.P2039T

c.6115C>A

3 papers

NM_017564.10

p.R2203C

c.6607C>T

2 papers

NM_017564.10

p.P55L

c.164C>T

2 papers

NM_017564.10

p.R104H

c.311G>A

2 papers

NM_017564.10

p.A151V

c.452C>T

2 papers

NM_017564.10

p.P510R

c.1529C>G