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.D903H

c.2707G>C

Surrounding Variants

3 papers

NM_020975.6

p.D903N

c.2707G>A

1 paper

NM_020975.6

p.D903fs

c.2707_2708fs

1 paper

NM_020975.6

p.D903G

c.2708A>G

1 paper

NM_020975.6

p.D903V

c.2708A>T

2 papers

NM_020975.6

p.E902G

c.2705A>G

2 papers

NM_020975.6

p.E902K

c.2704G>A

1 paper

NM_020975.6

p.E902Q

c.2704G>C

1 paper

NM_020975.6

p.S904T

c.2710T>A

1 paper

NM_020975.6

p.S904P

c.2710T>C

4 papers

NM_020975.6

p.S904A

c.2710T>G

1 paper

NM_020975.6

p.E901E

c.2703A>G

2 papers

NM_020975.6

p.E902del1

c.2704_2705delGAG