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

1–12 of 570 variants

8 papers

NM_015136.3

p.M2506T

c.7517T>C

7 papers

NM_015136.3

p.S1089G

c.3265A>G

7 papers

NM_015136.3

p.I2282V

c.6844A>G

5 papers

NM_015136.3

p.R1872H

c.5615G>A

4 papers

NM_015136.3

p.M912V

c.2734A>G

4 papers

NM_015136.3

p.A1833P

c.5497G>C

4 papers

NM_015136.3

p.A2477V

c.7430C>T

3 papers

NM_015136.3

p.E117*

c.349G>T

3 papers

NM_015136.3

p.K705M

c.2114A>T

3 papers

NM_015136.3

p.L790I

c.2368C>A

3 papers

NM_015136.3

p.R1122*

c.3364C>T

3 papers

NM_015136.3

p.E1355K

c.4063G>A