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

40 papers

NM_020975.6

p.I852M

c.2556C>G

Surrounding Variants

1 paper

NM_020975.6

p.S853T

c.2557T>A

3 papers

NM_020975.6

p.I852V

c.2554A>G

1 paper

NM_020975.6

p.S853L

c.2558C>T

1 paper

NM_020975.6

p.L851H

c.2552T>A

1 paper

NM_020975.6

p.L851I

c.2551C>A

1 paper

NM_020975.6

p.D850E

c.2550C>A

1 paper

NM_020975.6

p.D850E

c.2550C>G

1 paper

NM_020975.6

p.D850G

c.2549A>G

1 paper

NM_020975.6

p.D850V

c.2549A>T

1 paper

NM_020975.6

p.A855S

c.2563G>T

1 paper

NM_020975.6

p.D850N

c.2548G>A

1 paper

NM_020975.6

p.G849G

c.2547C>T