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.P140P

c.420A>G

Surrounding Variants

1 paper

NM_020975.6

p.P140Q

c.419C>A

1 paper

NM_020975.6

p.G141S

c.421G>A

1 paper

NM_020975.6

p.G141C

c.421G>T

1 paper

NM_020975.6

p.P140S

c.418C>T

4 papers

NM_020975.6

p.G141D

c.422G>A

2 papers

NM_020975.6

p.W139C

c.417G>C

4 papers

NM_020975.6

p.W139C

c.417G>T

2 papers

NM_020975.6

p.W139*

c.416G>A

8 papers

NM_020975.6

p.C142S

c.424T>A

8 papers

NM_020975.6

p.C142S

c.425G>C

1 paper

NM_020975.6

p.A143T

c.427G>A

1 paper

NM_020975.6

p.A143P

c.427G>C