Varaico: Literature-Extracted Genetic Variants

RET

5,388 papers

RefSeq Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related...

Pfam Domains

RET_CLD1aa 29–154UCSCRET Cadherin like domain 1

Cadherinaa 172–261UCSCCadherin domain

RET_CLD3aa 265–379UCSCRET Cadherin like domain 3

RET_CLD4aa 282–375UCSCRET Cadherin like domain 4

RET_CLD4aa 404–507UCSCRET Cadherin like domain 4

RET_CRDaa 518–620UCSCRET, Cysteine Rich Domain

Gene Aliases

HGNC Name

ret proto-oncogene

HGNC Previous Symbols

HSCR1; MEN2A; MTC1; MEN2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020975.6

p.F285L

c.853T>C

Surrounding Variants

3 papers

NM_020975.6

p.F285Y

c.854T>A

1 paper

NM_020975.6

p.F285S

c.854T>C

1 paper

NM_020975.6

p.F285C

c.854T>G

1 paper

NM_020975.6

p.F285insFs

c.854_855insC

2 papers

NM_020975.6

p.F285L

c.855C>A

2 papers

NM_020975.6

p.F285L

c.855C>G

1 paper

NM_020975.6

p.E284Q

c.850G>C

1 paper

NM_020975.6

p.K286M

c.857A>T

1 paper

NM_020975.6

p.V283G

c.848T>G

2 papers

NM_020975.6

p.E284delFs

c.850delG

1 paper

NM_020975.6

p.R287R

c.859C>A

1 paper

NM_020975.6

p.R287insFs

c.859_860ins5