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.I538T

c.1613T>C

Surrounding Variants

1 paper

NM_023110.3

p.I538S

c.1613T>G

1 paper

NM_023110.3

p.I538N

c.1613T>A

2 papers

NM_023110.3

p.I538I

c.1614C>T

2 papers

NM_023110.3

p.I538M

c.1614C>G

1 paper

NM_023110.3

p.I538I

c.1614C>A

1 paper

NM_023110.3

p.I538F

c.1612A>T

10 papers

NM_023110.3

p.I538V

c.1612A>G

1 paper

NM_023110.3

p.I538L

c.1612A>C

3 papers

NM_023110.3

p.M537I

c.1611G>T

1 paper

NM_023110.3

p.G539W

c.1615G>T

6 papers

NM_023110.3

p.G539R

c.1615G>C

3 papers

NM_023110.3

p.M537I

c.1611G>C