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

2 papers

NM_020975.6

p.E235Q

c.703G>C

Surrounding Variants

9 papers

NM_020975.6

p.E235K

c.703G>A

1 paper

NM_020975.6

p.R234_E235ins2

c.702_703ins6

2 papers

NM_020975.6

p.R234L

c.701G>T

1 paper

NM_020975.6

p.E235D

c.705G>T

1 paper

NM_020975.6

p.K236_L239delFs

c.706_715del10

1 paper

NM_020975.6

p.K236E

c.706A>G

3 papers

NM_020975.6

p.R234W

c.700C>T

1 paper

NM_020975.6

p.K236R

c.707A>G

2 papers

NM_020975.6

p.Q233*

c.697C>T

1 paper

NM_020975.6

p.E232_E235delFs

c.696_705del10

2 papers

NM_020975.6

p.E238K

c.712G>A

1 paper

NM_020975.6

p.E232K

c.694G>A