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.Q341L

c.1022A>T

Surrounding Variants

1 paper

NM_020975.6

p.A342_F346del5

c.1024_1037del15

1 paper

NM_020975.6

p.A342D

c.1025C>A

2 papers

NM_020975.6

p.A342G

c.1025C>G

2 papers

NM_020975.6

p.A342V

c.1025C>T

1 paper

NM_020975.6

p.N343insFs

c.1027dupA

3 papers

NM_020975.6

p.V340F

c.1018G>T

2 papers

NM_020975.6

p.S339*

c.1016C>A

3 papers

NM_020975.6

p.S339L

c.1016C>T

1 paper

NM_020975.6

p.G344S

c.1030G>A

1 paper

NM_020975.6

p.G344R

c.1030G>C

2 papers

NM_020975.6

p.T338S

c.1013C>G

15 papers

NM_020975.6

p.T338I

c.1013C>T