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.L15ins3

c.43_44ins9

Surrounding Variants

1 paper

NM_020975.6

p.L15fs

c.43_44fs

10 papers

NM_020975.6

p.L19_P20del1

c.56_58delTGC

1 paper

NM_020975.6

p.L15delFs

c.43delT

2 papers

NM_020975.6

p.L15F

c.45G>C

1 paper

NM_020975.6

p.L16_L18insFs

c.46_52dup7

4 papers

NM_020975.6

p.L14Q

c.41T>A

1 paper

NM_020975.6

p.L14delFs

c.42delG

1 paper

NM_020975.6

p.L14M

c.40C>A

1 paper

NM_020975.6

p.L16M

c.46C>A

1 paper

NM_020975.6

p.L14V

c.40C>G

3 papers

NM_020975.6

p.L14L

c.40C>T

2 papers

NM_020975.6

p.L16L

c.46C>T