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.L18fs

c.52_53fs

Surrounding Variants

1 paper

NM_020975.6

p.L18L

c.52C>T

1 paper

NM_020975.6

p.L18delFs

c.53delT

1 paper

NM_020975.6

p.L18_L22delFs

c.53_66del14

2 papers

NM_020975.6

p.L17L

c.51G>A

1 paper

NM_020975.6

p.L17L

c.51G>C

1 paper

NM_020975.6

p.L18P

c.53T>C

1 paper

NM_020975.6

p.L18_L19insFs

c.54_55insT

2 papers

NM_020975.6

p.L19delFs

c.55delC

1 paper

NM_020975.6

p.L17P

c.50T>C

1 paper

NM_020975.6

p.L19M

c.55C>A

3 papers

NM_020975.6

p.L16L

c.48G>A

1 paper

NM_020975.6

p.L16_L17ins16

c.48_49ins48