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.L985P

c.2954T>C

Surrounding Variants

2 papers

NM_020975.6

p.M984I

c.2952G>A

2 papers

NM_020975.6

p.M984I

c.2952G>C

2 papers

NM_020975.6

p.M984I

c.2952G>T

1 paper

NM_020975.6

p.Q986R

c.2957A>G

1 paper

NM_020975.6

p.M984T

c.2951T>C

1 paper

NM_020975.6

p.C987G

c.2959T>G

1 paper

NM_020975.6

p.L983P

c.2948T>C

14 papers

NM_020975.6

p.R982H

c.2945G>A

1 paper

NM_020975.6

p.R982L

c.2945G>T

1 paper

NM_020975.6

p.K989_E991del3

c.2965_2972del9

1 paper

NM_020975.6

p.R982G

c.2944C>G

92 papers

NM_020975.6

p.R982C

c.2944C>T