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.A1046S

c.3136G>T

Surrounding Variants

1 paper

NM_020975.6

p.A1046T

c.3136G>A

2 papers

NM_020975.6

p.A1046insFs

c.3136_3137insC

1 paper

NM_020975.6

p.A1046fs

c.3136_3137fs

1 paper

NM_020975.6

p.L1048delFs

c.3142delC

1 paper

NM_020975.6

p.N1045S

c.3134A>G

1 paper

NM_020975.6

p.P1047fs

c.3139_3140fs

6 papers

NM_020975.6

p.P1047S

c.3139C>T

1 paper

NM_020975.6

p.N1044K

c.3132T>A

1 paper

NM_020975.6

p.N1044K

c.3132T>G

3 papers

NM_020975.6

p.L1048V

c.3142C>G

3 papers

NM_020975.6

p.L1048F

c.3142C>T

1 paper

NM_020975.6

p.L1048delFs

c.3143delT