Varaico: Literature-Extracted Genetic Variants

TINF2

337 papers

RefSeq Summary

This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encod...

Pfam Domains

TINF2_Naa 20–65UCSCTERF1-interacting nuclear factor 2 N-terminus

TINF2_Naa 64–134UCSCTERF1-interacting nuclear factor 2 N-terminus

Gene Aliases

HGNC Name

TERF1 interacting nuclear factor 2

HGNC Alias Symbol

TIN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001099274.3

p.L263V

c.787C>G

Surrounding Variants

6 papers

NM_001099274.3

p.R265*

c.793C>T

1 paper

NM_001099274.3

p.R265Q

c.794G>A

5 papers

NM_001099274.3

p.R266*

c.796C>T

1 paper

NM_001099274.3

p.H257_F258del2

c.769_773del6

15 papers

NM_001099274.3

p.Q269*

c.805C>T

3 papers

NM_001099274.3

p.R256*

c.766C>T

9 papers

NM_001099274.3

p.Q271*

c.811C>T

1 paper

NM_001099274.3

p.S270insFs

c.810dupC

1 paper

NM_001099274.3

p.Q271insFs

c.813dupA

1 paper

NM_001099274.3

p.W272R

c.814T>C

1 paper

NM_001099274.3

p.W272R

c.814T>A

6 papers

NM_001099274.3

p.W272*

c.815G>A