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.N635Y

c.1903A>T

Surrounding Variants

1 paper

NM_023110.3

p.N635D

c.1903A>G

1 paper

NM_023110.3

p.N635H

c.1903A>C

1 paper

NM_023110.3

p.D634E

c.1902C>G

1 paper

NM_023110.3

p.D634E

c.1902C>A

1 paper

NM_023110.3

p.N635T

c.1904A>C

2 papers

NM_023110.3

p.N635K

c.1905T>G

2 papers

NM_023110.3

p.N635K

c.1905T>A

1 paper

NM_023110.3

p.V636L

c.1906G>T

1 paper

NM_023110.3

p.D634Y

c.1900G>T

1 paper

NM_023110.3

p.V636L

c.1906G>C

1 paper

NM_023110.3

p.D634H

c.1900G>C

1 paper

NM_023110.3

p.V636M

c.1906G>A