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

228 papers

NM_020975.6

p.S891A

c.2671T>G

Surrounding Variants

5 papers

NM_020975.6

p.S891*

c.2672C>A

17 papers

NM_020975.6

p.S891L

c.2672C>T

1 paper

NM_020975.6

p.I890M

c.2670T>G

4 papers

NM_020975.6

p.S891S

c.2673G>A

3 papers

NM_020975.6

p.D892N

c.2674G>A

1 paper

NM_020975.6

p.D892H

c.2674G>C

11 papers

NM_020975.6

p.F893L

c.2677T>C

1 paper

NM_020975.6

p.F893V

c.2677T>G

1 paper

NM_020975.6

p.M888I

c.2664G>A

1 paper

NM_020975.6

p.M888I

c.2664G>C

1 paper

NM_020975.6

p.M888I

c.2664G>T

1 paper

NM_020975.6

p.F893Y

c.2678T>A