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

7 papers

NM_020975.6

p.S696A

c.2086T>G

Surrounding Variants

1 paper

NM_020975.6

p.S696fs

c.2086_2087fs

1 paper

NM_020975.6

p.S696*

c.2087C>A

2 papers

NM_020975.6

p.S696L

c.2087C>T

3 papers

NM_020975.6

p.P695S

c.2083C>T

1 paper

NM_020975.6

p.S696_S705del10

c.2086_2114del30

1 paper

NM_020975.6

p.P695delFs

c.2085delC

16 papers

NM_020975.6

p.R694Q

c.2081G>A

4 papers

NM_020975.6

p.R694W

c.2080C>T

1 paper

NM_020975.6

p.D698N

c.2092G>A

1 paper

NM_020975.6

p.D698fs

c.2092_2093fs

1 paper

NM_020975.6

p.D698Y

c.2092G>T

1 paper

NM_020975.6

p.R693R

c.2079C>T