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

2 papers

NM_023110.3

p.Q52*

c.154C>T

Surrounding Variants

1 paper

NM_023110.3

p.Q52L

c.155A>T

1 paper

NM_023110.3

p.L51delFs

c.151delG

1 paper

NM_023110.3

p.L51fs

c.151_152fs

1 paper

NM_023110.3

p.L53F

c.157C>T

2 papers

NM_023110.3

p.L53H

c.158T>A

1 paper

NM_023110.3

p.L50L

c.150G>C

1 paper

NM_023110.3

p.Q52_L53delFs

c.154_158del5

4 papers

NM_023110.3

p.R54C

c.160C>T

1 paper

NM_023110.3

p.L50L

c.148C>T

2 papers

NM_023110.3

p.R54S

c.160C>A

3 papers

NM_023110.3

p.R54H

c.161G>A

5 papers

NM_023110.3

p.D49V

c.146A>T