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.R348R

c.1044G>C

Surrounding Variants

1 paper

NM_020975.6

p.R348R

c.1044G>A

2 papers

NM_020975.6

p.R348_A349insFs

c.1044_1045insC

6 papers

NM_020975.6

p.R348Q

c.1043G>A

1 paper

NM_020975.6

p.A349T

c.1045G>A

1 paper

NM_020975.6

p.A349fs

c.1045_1046fs

1 paper

NM_020975.6

p.A349S

c.1045G>T

5 papers

NM_020975.6

p.A349V

c.1046C>T

3 papers

NM_020975.6

p.R348W

c.1042C>T

1 paper

NM_020975.6

p.V347E

c.1040T>A

1 paper

NM_020975.6

p.V347A

c.1040T>C

1 paper

NM_020975.6

p.V347G

c.1040T>G

2 papers

NM_020975.6

p.T350N

c.1049C>A