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.S128A

c.382T>G

Surrounding Variants

1 paper

NM_020975.6

p.S128_G135delFs

c.383_404del22

1 paper

NM_020975.6

p.S128L

c.383C>T

1 paper

NM_020975.6

p.L127L

c.381G>A

1 paper

NM_020975.6

p.L127R

c.380T>G

1 paper

NM_020975.6

p.P129_T130insA

c.385_389ins3

3 papers

NM_020975.6

p.P129S

c.385C>T

1 paper

NM_020975.6

p.L127L

c.379C>T

1 paper

NM_020975.6

p.F126L

c.378C>A

1 paper

NM_020975.6

p.F126L

c.378C>G

1 paper

NM_020975.6

p.P129P

c.387C>A

1 paper

NM_020975.6

p.P129P

c.387C>G

1 paper

NM_020975.6

p.P129P

c.387C>T