Varaico: Literature-Extracted Genetic Variants

STAB1

206 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, 16 epidermal g...

Pfam Domains

EGF_STAB1-2aa 150–196UCSCStabilin-1/2, EGF-like domain

Fasciclinaa 375–493UCSCFasciclin domain

Fasciclinaa 517–643UCSCFasciclin domain

EGF_STAB1-2aa 770–819UCSCStabilin-1/2, EGF-like domain

EGF_3aa 828–859UCSCEGF domain

EGF_3aa 908–945UCSCEGF domain

Gene Aliases

HGNC Name

stabilin 1

HGNC Alias Symbols

KIAA0246; STAB-1; FEEL-1; CLEVER-1; FELE-1; FEX1; SCARH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015136.3

p.F2508S

c.7523T>C

Surrounding Variants

1 paper

NM_015136.3

p.M2506K

c.7517T>A

8 papers

NM_015136.3

p.M2506T

c.7517T>C

2 papers

NM_015136.3

p.G2503S

c.7507G>A

1 paper

NM_015136.3

p.R2502*

c.7504C>T

1 paper

NM_015136.3

p.G2495R

c.7483G>A

1 paper

NM_015136.3

p.G2495R

c.7483G>C

1 paper

NM_015136.3

p.G2491R

c.7471G>C

1 paper

NM_015136.3

p.G2487A

c.7460G>C

1 paper

NM_015136.3

p.A2482P

c.7444G>C

1 paper

NM_015136.3

p.V2480M

c.7438G>A

4 papers

NM_015136.3

p.A2477V

c.7430C>T

1 paper

NM_015136.3

p.E2516*

c.7546G>T