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

4 papers

NM_023110.3

p.S518A

c.1552T>G

Surrounding Variants

1 paper

NM_023110.3

p.S518P

c.1552T>C

1 paper

NM_023110.3

p.S518T

c.1552T>A

1 paper

NM_023110.3

p.S518L

c.1553C>T

1 paper

NM_023110.3

p.S518W

c.1553C>G

1 paper

NM_023110.3

p.S518*

c.1553C>A

2 papers

NM_023110.3

p.S518Splc

c.1553-2A>G

1 paper

NM_023110.3

p.S518S

c.1554G>T

1 paper

NM_023110.3

p.S518S

c.1554G>C

1 paper

NM_023110.3

p.S518S

c.1554G>A

1 paper

NM_023110.3

p.D519Y

c.1555G>T

1 paper

NM_023110.3

p.D519H

c.1555G>C

1 paper

NM_023110.3

p.D519N

c.1555G>A