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.L557_Y558del0

c.1669_1674del6

Surrounding Variants

1 paper

NM_023110.3

p.V559F

c.1675G>T

2 papers

NM_023110.3

p.V559L

c.1675G>C

2 papers

NM_023110.3

p.V559I

c.1675G>A

2 papers

NM_023110.3

p.V559G

c.1676T>G

1 paper

NM_023110.3

p.Y558*

c.1674T>G

2 papers

NM_023110.3

p.V559A

c.1676T>C

1 paper

NM_023110.3

p.Y558Y

c.1674T>C

3 papers

NM_023110.3

p.V559D

c.1676T>A

1 paper

NM_023110.3

p.Y558*

c.1674T>A

1 paper

NM_023110.3

p.V559V

c.1677C>T

1 paper

NM_023110.3

p.V559V

c.1677C>G

1 paper

NM_023110.3

p.V559V

c.1677C>A