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.G1592R

c.4774G>C

Surrounding Variants

2 papers

NM_017564.10

p.G1592R

c.4774G>A

1 paper

NM_017564.10

p.R1596H

c.4787G>A

2 papers

NM_017564.10

p.G1597S

c.4789G>A

1 paper

NM_017564.10

p.G1597R

c.4789G>C

1 paper

NM_017564.10

p.C1566Y

c.4697G>A

1 paper

NM_017564.10

p.G1565A

c.4694G>C

1 paper

NM_017564.10

p.G1565S

c.4693G>A

1 paper

NM_017564.10

p.P1607L

c.4820C>T

1 paper

NM_017564.10

p.F1613L

c.4837T>C

1 paper

NM_017564.10

p.E1642*

c.4924G>T

1 paper

NM_017564.10

p.H1662R

c.4985A>G

2 papers

NM_017564.10

p.A1665T

c.4993G>A