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.L1851P

c.5552T>C

Surrounding Variants

4 papers

NM_000051.4

p.Q1852insFs

c.5554_5555insC

1 paper

NM_000051.4

p.L1851_Q1852del1

c.5553_5555delCCA

1 paper

NM_000051.4

p.L1851I

c.5551C>A

1 paper

NM_000051.4

p.Q1852insFs

c.5555_5556insCA

3 papers

NM_000051.4

p.L1851V

c.5551C>G

5 papers

NM_000051.4

p.L1851F

c.5551C>T

2 papers

NM_000051.4

p.Q1852_T1854del3

c.5554_5561del9

1 paper

NM_000051.4

p.L1851fs

c.5551_5552fs

3 papers

NM_000051.4

p.Q1852K

c.5554C>A

1 paper

NM_000051.4

p.Q1852fs

c.5554_5555fs

12 papers

NM_000051.4

p.Q1852*

c.5554C>T

1 paper

NM_000051.4

p.Q1852fs

c.5554_5555fs