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.L1457_A1460del4

c.4369_4379del12

Surrounding Variants

4 papers

NM_000051.4

p.G1456D

c.4367G>A

1 paper

NM_000051.4

p.G1456V

c.4367G>T

1 paper

NM_000051.4

p.G1456S

c.4366G>A

2 papers

NM_000051.4

p.L1457*

c.4370T>A

2 papers

NM_000051.4

p.L1457S

c.4370T>C

4 papers

NM_000051.4

p.L1457*

c.4370T>G

1 paper

NM_000051.4

p.L1457L

c.4371A>G

8 papers

NM_000051.4

p.G1458delFs

c.4373delG

15 papers

NM_000051.4

p.S1455R

c.4365T>A

15 papers

NM_000051.4

p.S1455R

c.4365T>G

1 paper

NM_000051.4

p.G1458R

c.4372G>A

1 paper

NM_000051.4

p.G1458R

c.4372G>C