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.E1035E

c.3105G>A

Surrounding Variants

1 paper

NM_020975.6

p.S1034L

c.3101C>T

1 paper

NM_020975.6

p.E1037K

c.3109G>A

1 paper

NM_020975.6

p.E1037insFs

c.3109_3110insAA

24 papers

NM_020975.6

p.T1038A

c.3112A>G

1 paper

NM_020975.6

p.L1033I

c.3097C>A

4 papers

NM_020975.6

p.T1038I

c.3113C>T

1 paper

NM_020975.6

p.T1038T

c.3114A>G

1 paper

NM_020975.6

p.P1039S

c.3115C>T

2 papers

NM_020975.6

p.G1032D

c.3095G>A

1 paper

NM_020975.6

p.G1032V

c.3095G>T

5 papers

NM_020975.6

p.P1039Q

c.3116C>A

10 papers

NM_020975.6

p.P1039L

c.3116C>T