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

1 paper

NM_020975.6

p.F709L

c.2127C>G

Surrounding Variants

1 paper

NM_020975.6

p.F709L

c.2127C>A

1 paper

NM_020975.6

p.K710E

c.2128A>G

8 papers

NM_020975.6

p.K710R

c.2129A>G

1 paper

NM_020975.6

p.F709L

c.2125T>C

1 paper

NM_020975.6

p.F709fs

c.2125_2126fs

1 paper

NM_020975.6

p.F709delFs

c.2126delT

2 papers

NM_020975.6

p.K710N

c.2130G>C

2 papers

NM_020975.6

p.K710N

c.2130G>T

1 paper

NM_020975.6

p.A708T

c.2122G>A

6 papers

NM_020975.6

p.D707E

c.2121T>A

6 papers

NM_020975.6

p.D707E

c.2121T>G

7 papers

NM_020975.6

p.D707N

c.2119G>A