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.P1049L

c.3146C>T

Surrounding Variants

1 paper

NM_020975.6

p.P1049S

c.3145C>T

1 paper

NM_020975.6

p.P1049fs

c.3145_3146fs

1 paper

NM_020975.6

p.R1050G

c.3148C>G

6 papers

NM_020975.6

p.R1050*

c.3148C>T

1 paper

NM_020975.6

p.L1048L

c.3144C>T

6 papers

NM_020975.6

p.R1050Q

c.3149G>A

1 paper

NM_020975.6

p.R1050L

c.3149G>T

1 paper

NM_020975.6

p.L1048H

c.3143T>A

1 paper

NM_020975.6

p.P1049delFs

c.3145_3146delCC

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