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.T48S

c.142A>T

Surrounding Variants

1 paper

NM_020975.6

p.T48P

c.142A>C

1 paper

NM_020975.6

p.T48insFs

c.143_144insA

1 paper

NM_020975.6

p.T48R

c.143C>G

7 papers

NM_020975.6

p.T48M

c.143C>T

4 papers

NM_020975.6

p.G47D

c.140G>A

1 paper

NM_020975.6

p.T48T

c.144G>A

1 paper

NM_020975.6

p.T48T

c.144G>T

2 papers

NM_020975.6

p.G47S

c.139G>A

1 paper

NM_020975.6

p.G47Fs

c.139delinsTTFs

1 paper

NM_020975.6

p.G47insFs

c.140_141insG

1 paper

NM_020975.6

p.P49_L50delFs

c.147_148delCT

1 paper

NM_020975.6

p.P49P

c.147C>A