Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.L1851_Q1852delFs

c.5551_5555del5

Surrounding Variants

1 paper

NM_000051.4

p.L1850*

c.5549T>A

1 paper

NM_000051.4

p.L1850*

c.5549T>G

2 papers

NM_000051.4

p.L1851_Q1852del2

c.5551_5555del6

4 papers

NM_000051.4

p.L1850fs

c.5548_5549fs

1 paper

NM_000051.4

p.L1850fs

c.5548_5549fs

1 paper

NM_000051.4

p.L1851I

c.5551C>A

3 papers

NM_000051.4

p.L1851V

c.5551C>G

5 papers

NM_000051.4

p.L1851F

c.5551C>T

1 paper

NM_000051.4

p.L1851fs

c.5551_5552fs

1 paper

NM_000051.4

p.I1849I

c.5547T>C

1 paper

NM_000051.4

p.L1851P

c.5552T>C

4 papers

NM_000051.4

p.Q1852insFs

c.5554_5555insC