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.Y52S

c.155A>C

Surrounding Variants

1 paper

NM_020975.6

p.V53_F66del14

c.157_197del42

1 paper

NM_020975.6

p.Y52N

c.154T>A

1 paper

NM_020975.6

p.L51L

c.153G>A

1 paper

NM_020975.6

p.V53I

c.157G>A

1 paper

NM_020975.6

p.V53L

c.157G>C

1 paper

NM_020975.6

p.V53D

c.158T>A

1 paper

NM_020975.6

p.V53A

c.158T>C

2 papers

NM_020975.6

p.V53G

c.158T>G

1 paper

NM_020975.6

p.V53insFs

c.158_159ins4

1 paper

NM_020975.6

p.V53V

c.159C>A

1 paper

NM_020975.6

p.V53V

c.159C>T

1 paper

NM_020975.6

p.H54N

c.160C>A