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

41 papers

NM_020975.6

p.E511K

c.1531G>A

Surrounding Variants

1 paper

NM_020975.6

p.E511*

c.1531G>T

16 papers

NM_020975.6

p.A510V

c.1529C>T

1 paper

NM_020975.6

p.E511E

c.1533G>A

2 papers

NM_020975.6

p.E511D

c.1533G>C

2 papers

NM_020975.6

p.E511D

c.1533G>T

1 paper

NM_020975.6

p.A510T

c.1528G>A

1 paper

NM_020975.6

p.E512G

c.1535A>G

3 papers

NM_020975.6

p.V509A

c.1526T>C

1 paper

NM_020975.6

p.V509insFs

c.1526_1527insG

2 papers

NM_020975.6

p.A513T

c.1537G>A

1 paper

NM_020975.6

p.V509L

c.1525G>C

1 paper

NM_020975.6

p.V509_A510insAA

c.1525_1529ins6