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.E140_T141delFs

c.420_423del4

Surrounding Variants

2 papers

NM_023110.3

p.D142Y

c.424G>T

1 paper

NM_023110.3

p.D142delFs

c.424_425delTC

13 papers

NM_023110.3

p.T141R

c.422C>G

2 papers

NM_023110.3

p.T141A

c.421A>G

1 paper

NM_023110.3

p.S134_E140ins2

c.400_420dup21

1 paper

NM_023110.3

p.E140E

c.420A>G

1 paper

NM_023110.3

p.D142_N143delFs

c.424_427del4

1 paper

NM_023110.3

p.K145*

c.433A>T

2 papers

NM_023110.3

p.K139E

c.415A>G

1 paper

NM_023110.3

p.K145Q

c.433A>C

1 paper

NM_023110.3

p.T144delFs

c.432delG

1 paper

NM_023110.3

p.K145N

c.435A>T