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

2 papers

NM_000051.4

p.N2494Y

c.7480A>T

Surrounding Variants

1 paper

NM_000051.4

p.N2494fs

c.7480_7481fs

1 paper

NM_000051.4

p.N2494H

c.7480A>C

2 papers

NM_000051.4

p.N2494fs

c.7480_7481fs

1 paper

NM_000051.4

p.E2493G

c.7478A>G

1 paper

NM_000051.4

p.E2493V

c.7478A>T

12 papers

NM_000051.4

p.N2494insFs

c.7481dupA

1 paper

NM_000051.4

p.E2493*

c.7477G>T

1 paper

NM_000051.4

p.S2495F

c.7484C>T

1 paper

NM_000051.4

p.S2495_M2504delFs

c.7485_7512del28

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.G2496*

c.7486G>T