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.N590T

c.1769A>C

Surrounding Variants

1 paper

NM_023110.3

p.N590I

c.1769A>T

1 paper

NM_023110.3

p.N590S

c.1769A>G

1 paper

NM_023110.3

p.N590K

c.1770C>G

1 paper

NM_023110.3

p.N590K

c.1770C>A

1 paper

NM_023110.3

p.N590Y

c.1768A>T

1 paper

NM_023110.3

p.N590D

c.1768A>G

1 paper

NM_023110.3

p.N590H

c.1768A>C

2 papers

NM_001174067.2

p.P622S

c.1864C>T

NM_023110.3

p.P591S

c.1771C>T

1 paper

NM_023110.3

p.H589H

c.1767C>T

2 papers

NM_023110.3

p.H589Q

c.1767C>G

1 paper

NM_023110.3

p.P591A

c.1771C>G

3 papers

NM_023110.3

p.H589Q

c.1767C>A

NM_001354369.2

p.H585Q

c.1755C>A