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.T79A

c.235A>G

Surrounding Variants

1 paper

NM_023110.3

p.E75_R78del4

c.223_233del12

5 papers

NM_023110.3

p.R78H

c.233G>A

1 paper

NM_023110.3

p.S76_T79delFs

c.227_236del10

11 papers

NM_001174067.2

p.R111C

c.331C>T

NM_023110.3

p.R78C

c.232C>T

10 papers

NM_023110.3

p.R80C

c.238C>T

3 papers

NM_023110.3

p.R78G

c.232C>G

2 papers

NM_023110.3

p.R80G

c.238C>G

1 paper

NM_023110.3

p.R80S

c.238C>A

3 papers

NM_023110.3

p.R80H

c.239G>A

NM_001174067.2

p.R113H

c.338G>A

4 papers

NM_023110.3

p.N77K

c.231C>G

4 papers

NM_023110.3

p.N77K

c.231C>A

1 paper

NM_023110.3

p.N77delFs

c.230delT