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

18 papers

NM_023110.3

p.L342S

c.1025T>C

Surrounding Variants

3 papers

NM_023110.3

p.L342*

c.1025T>A

3 papers

NM_023110.3

p.L342V

c.1024T>G

2 papers

NM_023110.3

p.L342L

c.1024T>C

1 paper

NM_023110.3

p.L342F

c.1026G>T

1 paper

NM_023110.3

p.L342F

c.1026G>C

1 paper

NM_023110.3

p.L342delFs

c.1025delA

2 papers

NM_023110.3

p.C341W

c.1023C>G

1 paper

NM_023110.3

p.T340_C341delFs

c.1020_1021delAC

1 paper

NM_023110.3

p.C341S

c.1022G>C

3 papers

NM_023110.3

p.C341Y

c.1022G>A

NM_001354368.2

p.C250Y

c.749G>A

NM_001174067.2

p.C372Y

c.1115G>A

2 papers

NM_023110.3

p.E338_T340del0

c.1014_1019del6

7 papers

NM_023110.3

p.A343V

c.1028C>T