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_001174067.2

p.E723K

c.2167G>A

NM_023110.3

p.E692K

c.2074G>A

Surrounding Variants

1 paper

NM_023110.3

p.E692*

c.2074G>T

2 papers

NM_023110.3

p.W691C

c.2073G>T

2 papers

NM_023110.3

p.W691C

c.2073G>C

1 paper

NM_023110.3

p.W691*

c.2073G>A

6 papers

NM_023110.3

p.E692G

c.2075A>G

1 paper

NM_023110.3

p.E692delFs

c.2074delC

1 paper

NM_023110.3

p.E692D

c.2076G>T

1 paper

NM_001174067.2

p.W722insFs

c.2165_2166ins4

1 paper

NM_023110.3

p.E692D

c.2076G>C

1 paper

NM_023110.3

p.W691*

c.2072G>A

3 papers

NM_023110.3

p.W691R

c.2071T>C

3 papers

NM_023110.3

p.W691R

c.2071T>A