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.W2491C

c.7473G>C

Surrounding Variants

4 papers

NM_000051.4

p.W2491*

c.7473G>A

1 paper

NM_000051.4

p.W2491C

c.7473G>T

4 papers

NM_000051.4

p.W2491*

c.7472G>A

2 papers

NM_000051.4

p.W2491L

c.7472G>T

5 papers

NM_000051.4

p.W2491R

c.7471T>A

5 papers

NM_000051.4

p.W2491R

c.7471T>C

1 paper

NM_000051.4

p.L2492P

c.7475T>C

49 papers

NM_000051.4

p.L2492R

c.7475T>G

1 paper

NM_000051.4

p.W2491G

c.7471T>G

1 paper

NM_000051.4

p.W2491fs

c.7471_7472fs

12 papers

NM_000051.4

p.N2494insFs

c.7481dupA

1 paper

NM_000051.4

p.E2493*

c.7477G>T