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.P155S

c.463C>T

Surrounding Variants

1 paper

NM_020975.6

p.P155_S158delFs

c.465_474del10

1 paper

NM_020975.6

p.P155insFs

c.464_465insT

4 papers

NM_020975.6

p.P155L

c.464C>T

1 paper

NM_020975.6

p.P155P

c.465A>T

7 papers

NM_020975.6

p.A156T

c.466G>A

2 papers

NM_020975.6

p.A156S

c.466G>T

1 paper

NM_020975.6

p.F154L

c.460T>C

1 paper

NM_020975.6

p.A156D

c.467C>A

2 papers

NM_020975.6

p.A156V

c.467C>T

2 papers

NM_020975.6

p.S153F

c.458C>T

3 papers

NM_020975.6

p.C157S

c.469T>A

3 papers

NM_020975.6

p.C157Y

c.470G>A