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.R622L

c.1865G>T

Surrounding Variants

1 paper

NM_023110.3

p.R622P

c.1865G>C

12 papers

NM_023110.3

p.R622Q

c.1865G>A

NM_001174063.2

p.R620Q

c.1859G>A

31 papers

NM_023110.3

p.R622*

c.1864C>T

13 papers

NM_023110.3

p.R622G

c.1864C>G

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

1 paper

NM_023110.3

p.H621Q

c.1863C>G

1 paper

NM_023110.3

p.H621Q

c.1863C>A

1 paper

NM_023110.3

p.D623V

c.1868A>T

1 paper

NM_023110.3

p.H621L

c.1862A>T

5 papers

NM_023110.3

p.D623G

c.1868A>G