Varaico: Literature-Extracted Genetic Variants

FGFR1

2,164 papers

RefSeq Summary

The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family...

Pfam Domains

igaa 41–114UCSCImmunoglobulin domain

I-setaa 158–245UCSCImmunoglobulin I-set domain

I-setaa 257–356UCSCImmunoglobulin I-set domain

PK_Tyr_Ser-Thraa 474–750UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

fibroblast growth factor receptor 1

HGNC Previous Symbols

FLT2; KAL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_023110.3

p.L73L

c.217C>T

Surrounding Variants

1 paper

NM_023110.3

p.L73R

c.218T>G

1 paper

NM_023110.3

p.Q72P

c.215A>C

2 papers

NM_023110.3

p.Q72*

c.214C>T

1 paper

NM_023110.3

p.Q72K

c.214C>A

1 paper

NM_023110.3

p.V71_Q72insFs

c.213_214insT

1 paper

NM_023110.3

p.A74V

c.221C>T

3 papers

NM_023110.3

p.E75K

c.223G>A

2 papers

NM_023110.3

p.V71M

c.211G>A

1 paper

NM_023110.3

p.R68_G70del3

c.202_209del9

1 paper

NM_023110.3

p.D60_G70del0

c.179_208del30

2 papers

NM_023110.3

p.G70W

c.208G>T

10 papers

NM_023110.3

p.G70R

c.208G>C