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.D353Y

c.1057G>T

Surrounding Variants

1 paper

NM_020975.6

p.D353_Y354del1

c.1058_1060delACT

1 paper

NM_020975.6

p.D353G

c.1058A>G

1 paper

NM_020975.6

p.H352R

c.1055A>G

1 paper

NM_020975.6

p.D353E

c.1059C>A

2 papers

NM_020975.6

p.H352insFs

c.1054_1055insA

1 paper

NM_020975.6

p.H352Y

c.1054C>T

5 papers

NM_020975.6

p.V351E

c.1052T>A

1 paper

NM_020975.6

p.R355G

c.1063A>G

2 papers

NM_020975.6

p.V351I

c.1051G>A

3 papers

NM_020975.6

p.R355Splc

c.1063+1G>A

2 papers

NM_020975.6

p.T350N

c.1049C>A

1 paper

NM_020975.6

p.T350I

c.1049C>T