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.N628H

c.1882A>C

Surrounding Variants

1 paper

NM_023110.3

p.N628Y

c.1882A>T

1 paper

NM_023110.3

p.R627S

c.1881G>T

1 paper

NM_023110.3

p.R627S

c.1881G>C

7 papers

NM_023110.3

p.N628S

c.1883A>G

10 papers

NM_023110.3

p.N628K

c.1884T>G

10 papers

NM_023110.3

p.N628K

c.1884T>A

1 paper

NM_023110.3

p.R627M

c.1880G>T

16 papers

NM_023110.3

p.R627T

c.1880G>C

1 paper

NM_023110.3

p.R627K

c.1880G>A

1 paper

NM_023110.3

p.V629F

c.1885G>T

1 paper

NM_023110.3

p.V629L

c.1885G>C

2 papers

NM_023110.3

p.V629I

c.1885G>A