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

4 papers

NM_020975.6

p.A487T

c.1459G>A

Surrounding Variants

1 paper

NM_020975.6

p.A487V

c.1460C>T

1 paper

NM_020975.6

p.V486L

c.1456G>C

2 papers

NM_020975.6

p.V486L

c.1456G>T

1 paper

NM_020975.6

p.T488S

c.1463C>G

1 paper

NM_020975.6

p.V485E

c.1454T>A

38 papers

NM_020975.6

p.D489N

c.1465G>A

1 paper

NM_020975.6

p.V485M

c.1453G>A

1 paper

NM_020975.6

p.V485L

c.1453G>C

1 paper

NM_020975.6

p.V485L

c.1453G>T

4 papers

NM_020975.6

p.D489G

c.1466A>G

3 papers

NM_020975.6

p.M484T

c.1451T>C

1 paper

NM_020975.6

p.M484insFs

c.1451_1452dupTG