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.I1057S

c.3170T>G

Surrounding Variants

2 papers

NM_020975.6

p.I1057fs

c.3169_3170fs

1 paper

NM_020975.6

p.I1057F

c.3169A>T

1 paper

NM_020975.6

p.I1057M

c.3171T>G

1 paper

NM_020975.6

p.E1058_K1060del3

c.3172_3179del9

2 papers

NM_020975.6

p.W1056*

c.3168G>A

1 paper

NM_001355216.2

p.E804K

c.2410G>A

3 papers

NM_020975.6

p.W1056C

c.3168G>C

2 papers

NM_020975.6

p.W1056_I1057insFs

c.3168_3169insT

3 papers

NM_020975.6

p.W1056C

c.3168G>T

1 paper

NM_020975.6

p.E1058G

c.3173A>G

2 papers

NM_020975.6

p.W1056*

c.3167G>A

1 paper

NM_020975.6

p.W1056L

c.3167G>T