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_001174064.2

p.L585L

c.1755C>A

Surrounding Variants

1 paper

NM_023110.3

p.S596A

c.1786T>G

1 paper

NM_023110.3

p.L595R

c.1784T>G

1 paper

NM_023110.3

p.S596P

c.1786T>C

1 paper

NM_023110.3

p.L595P

c.1784T>C

1 paper

NM_023110.3

p.S596T

c.1786T>A

1 paper

NM_023110.3

p.L595H

c.1784T>A

4 papers

NM_023110.3

p.S596F

c.1787C>T

1 paper

NM_023110.3

p.L595F

c.1783C>T

1 paper

NM_023110.3

p.S596C

c.1787C>G

1 paper

NM_023110.3

p.L595V

c.1783C>G

1 paper

NM_023110.3

p.L595insFs

c.1783_1784ins4

1 paper

NM_023110.3

p.S596Y

c.1787C>A