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

4 papers

NM_020975.6

p.A55delFs

c.165delC

Surrounding Variants

3 papers

NM_020975.6

p.A55T

c.163G>A

1 paper

NM_020975.6

p.A55G

c.164C>G

3 papers

NM_020975.6

p.L56_D58del3

c.166_173del9

1 paper

NM_020975.6

p.H54L

c.161A>T

1 paper

NM_020975.6

p.A55A

c.165C>A

1 paper

NM_020975.6

p.A55A

c.165C>G

1 paper

NM_020975.6

p.L56_R57delFs

c.166_170del5

40 papers

NM_020975.6

p.L56M

c.166C>A

1 paper

NM_020975.6

p.H54N

c.160C>A

1 paper

NM_020975.6

p.H54D

c.160C>G

1 paper

NM_020975.6

p.L56L

c.166C>T

2 papers

NM_020975.6

p.L56delFs

c.167delT