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.D527H

c.1579G>C

Surrounding Variants

1 paper

NM_023110.3

p.D527Y

c.1579G>T

1 paper

NM_023110.3

p.D527N

c.1579G>A

1 paper

NM_023110.3

p.D527V

c.1580A>T

1 paper

NM_023110.3

p.S526S

c.1578A>T

1 paper

NM_023110.3

p.D527G

c.1580A>G

1 paper

NM_023110.3

p.S526S

c.1578A>G

1 paper

NM_023110.3

p.D527A

c.1580A>C

1 paper

NM_023110.3

p.S526S

c.1578A>C

1 paper

NM_023110.3

p.D527D

c.1581C>T

1 paper

NM_023110.3

p.S526L

c.1577C>T

2 papers

NM_023110.3

p.S526*

c.1577C>G

1 paper

NM_023110.3

p.D527E

c.1581C>G