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.Y806H

c.2416T>C

Surrounding Variants

20 papers

NM_020975.6

p.Y806N

c.2416T>A

3 papers

NM_020975.6

p.Y806S

c.2417A>C

139 papers

NM_020975.6

p.Y806C

c.2417A>G

3 papers

NM_020975.6

p.Y806F

c.2417A>T

4 papers

NM_020975.6

p.Y806Y

c.2418C>T

42 papers

NM_020975.6

p.E805K

c.2413G>A

3 papers

NM_020975.6

p.A807T

c.2419G>A

2 papers

NM_020975.6

p.A807P

c.2419G>C

1 paper

NM_020975.6

p.E805*

c.2413G>T

1 paper

NM_020975.6

p.A807S

c.2419G>T

1 paper

NM_020975.6

p.A807G

c.2420C>G

7 papers

NM_020975.6

p.A807V

c.2420C>T