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

5 papers

NM_023110.3

p.D623G

c.1868A>G

Surrounding Variants

1 paper

NM_023110.3

p.D623V

c.1868A>T

10 papers

NM_023110.3

p.D623A

c.1868A>C

12 papers

NM_023110.3

p.D623Y

c.1867G>T

1 paper

NM_023110.3

p.D623H

c.1867G>C

1 paper

NM_023110.3

p.D623N

c.1867G>A

10 papers

NM_023110.3

p.D623E

c.1869C>G

9 papers

NM_023110.3

p.D623E

c.1869C>A

2 papers

NM_001174063.2

p.L622L

c.1864C>T

NM_023110.3

p.L624L

c.1870C>T

1 paper

NM_023110.3

p.L624V

c.1870C>G

1 paper

NM_023110.3

p.L624M

c.1870C>A

3 papers

NM_023110.3

p.L624R

c.1871T>G

2 papers

NM_001174067.2

p.L655P

c.1964T>C

NM_023110.3

p.L624P

c.1871T>C