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

3 papers

NM_017564.10

p.R2203C

c.6607C>T

Surrounding Variants

1 paper

NM_017564.10

p.A2216T

c.6646G>A

1 paper

NM_017564.10

p.A2216D

c.6647C>A

1 paper

NM_017564.10

p.R2217T

c.6650G>C

1 paper

NM_017564.10

p.K2238_A2239Splc

c.6714+45G>A

1 paper

NM_017564.10

p.R2278G

c.6832A>G

1 paper

NM_017564.10

p.N2280K

c.6840C>A

1 paper

NM_017564.10

p.N2280K

c.6840C>G

1 paper

NM_017564.10

p.E2283K

c.6847G>A

1 paper

NM_017564.10

p.D2294Splc

c.6880+1G>C

1 paper

NM_017564.10

p.D2184N

c.6550G>A

1 paper

NM_017564.10

p.R2173S

c.6517C>A

1 paper

NM_017564.10

p.P2170S

c.6508C>T