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.F116L

c.348T>A

Surrounding Variants

1 paper

NM_020975.6

p.F116L

c.348T>G

2 papers

NM_020975.6

p.L118delFs

c.352delC

2 papers

NM_020975.6

p.P117_T120del4

c.349_359del12

3 papers

NM_020975.6

p.P117T

c.349C>A

1 paper

NM_020975.6

p.P117H

c.350C>A

1 paper

NM_020975.6

p.F116L

c.346T>C

2 papers

NM_020975.6

p.G115G

c.345C>T

1 paper

NM_020975.6

p.L118delFs

c.353delT

1 paper

NM_020975.6

p.L118fs

c.352_353fs

5 papers

NM_020975.6

p.G115S

c.343G>A

2 papers

NM_020975.6

p.R114R

c.342C>T

1 paper

NM_020975.6

p.L118L

c.354G>A