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

2 papers

NM_023110.3

p.E84fs

c.250_251fs

Surrounding Variants

3 papers

NM_001174064.2

p.E76K

c.226G>A

NM_023110.3

p.E84K

c.250G>A

1 paper

NM_023110.3

p.E84V

c.251A>T

5 papers

NM_023110.3

p.T82_G83delFs

c.246_247delCT

1 paper

NM_023110.3

p.E85Q

c.253G>C

1 paper

NM_023110.3

p.V86M

c.256G>A

1 paper

NM_023110.3

p.T82fs

c.244_245fs

1 paper

NM_023110.3

p.E75_R80insFs

c.224_240dup17

1 paper

NM_023110.3

p.I81T

c.242T>C

1 paper

NM_023110.3

p.I81N

c.242T>A

2 papers

NM_023110.3

p.I81V

c.241A>G

1 paper

NM_023110.3

p.E87A

c.260A>C

1 paper

NM_023110.3

p.E87fs

c.259_260fs