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.K288N

c.864G>C

Surrounding Variants

2 papers

NM_020975.6

p.K288N

c.864G>T

1 paper

NM_020975.6

p.K288R

c.863A>G

3 papers

NM_020975.6

p.E289Q

c.865G>C

1 paper

NM_020975.6

p.E289insFs

c.865_866insT

1 paper

NM_020975.6

p.E289insFs

c.866_867insCT

1 paper

NM_020975.6

p.E289insFs

c.866_867insG

1 paper

NM_020975.6

p.E289A

c.866A>C

1 paper

NM_020975.6

p.K288E

c.862A>G

1 paper

NM_020975.6

p.E289V

c.866A>T

1 paper

NM_020975.6

p.K288fs

c.862_863fs

2 papers

NM_020975.6

p.E289E

c.867G>A

1 paper

NM_020975.6

p.K288delFs

c.863delA