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.P722R

c.2165C>G

Surrounding Variants

13 papers

NM_023110.3

p.P722H

c.2165C>A

10 papers

NM_023110.3

p.P722S

c.2164C>T

1 paper

NM_023110.3

p.K721N

c.2163G>T

1 paper

NM_023110.3

p.K721N

c.2163G>C

1 paper

NM_023110.3

p.S723R

c.2167A>C

1 paper

NM_023110.3

p.S723R

c.2169T>G

1 paper

NM_023110.3

p.S723S

c.2169T>C

1 paper

NM_023110.3

p.S723R

c.2169T>A

1 paper

NM_023110.3

p.K721*

c.2161A>T

1 paper

NM_023110.3

p.K721Q

c.2161A>C

1 paper

NM_023110.3

p.D720E

c.2160C>G

1 paper

NM_023110.3

p.D720E

c.2160C>A