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.S158S

c.474C>T

Surrounding Variants

1 paper

NM_020975.6

p.S159delFs

c.475delT

1 paper

NM_020975.6

p.S158N

c.473G>A

1 paper

NM_020975.6

p.S158C

c.472A>T

1 paper

NM_020975.6

p.S158delFs

c.472delA

1 paper

NM_020975.6

p.L160fs

c.478_479fs

2 papers

NM_020975.6

p.L160F

c.478C>T

1 paper

NM_020975.6

p.K161_F167del7

c.481_500del21

3 papers

NM_020975.6

p.C157Y

c.470G>A

3 papers

NM_020975.6

p.C157S

c.470G>C

3 papers

NM_020975.6

p.C157S

c.469T>A

1 paper

NM_020975.6

p.L160H

c.479T>A

1 paper

NM_020975.6

p.L160L

c.480C>T