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.P1053S

c.3157C>T

Surrounding Variants

3 papers

NM_020975.6

p.L1052V

c.3154C>G

2 papers

NM_020975.6

p.S1054delFs

c.3162delC

1 paper

NM_020975.6

p.A1051A

c.3153C>T

4 papers

NM_020975.6

p.A1051V

c.3152C>T

2 papers

NM_020975.6

p.T1055fs

c.3163_3164fs

4 papers

NM_020975.6

p.A1051T

c.3151G>A

1 paper

NM_020975.6

p.T1055K

c.3164C>A

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.R1050G

c.3148C>G

6 papers

NM_020975.6

p.R1050*

c.3148C>T

1 paper

NM_020975.6

p.W1056R

c.3166T>A