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

12 papers

NM_023110.3

p.N345K

c.1035C>G

Surrounding Variants

12 papers

NM_023110.3

p.N345K

c.1035C>A

1 paper

NM_023110.3

p.S346P

c.1036T>C

1 paper

NM_023110.3

p.N345delFs

c.1035delG

2 papers

NM_023110.3

p.S346fs

c.1036_1037fs

2 papers

NM_023110.3

p.N345I

c.1034A>T

2 papers

NM_023110.3

p.N345T

c.1034A>C

6 papers

NM_023110.3

p.S346C

c.1037C>G

2 papers

NM_023110.3

p.N345D

c.1033A>G

1 paper

NM_023110.3

p.N345H

c.1033A>C

1 paper

NM_023110.3

p.G344ins2

c.1031_1032ins6

3 papers

NM_023110.3

p.I347fs

c.1039_1040fs

2 papers

NM_023110.3

p.S346_I347insFs

c.1038_1039insT