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

23 papers

NM_000051.4

p.C1899*

c.5697C>A

Surrounding Variants

1 paper

NM_000051.4

p.C1899_C1900insFs

c.5697_5698insA

1 paper

NM_000051.4

p.C1899S

c.5696G>C

1 paper

NM_000051.4

p.C1900Y

c.5699G>A

1 paper

NM_000051.4

p.C1899S

c.5695T>A

2 papers

NM_000051.4

p.C1899R

c.5695T>C

1 paper

NM_000051.4

p.C1900*

c.5700T>A

12 papers

NM_000051.4

p.R1898Q

c.5693G>A

1 paper

NM_000051.4

p.R1898L

c.5693G>T

45 papers

NM_000051.4

p.R1898*

c.5692C>T

1 paper

NM_000051.4

p.L1901_D1902delins

c.5703_5704delinsAT

1 paper

NM_000051.4

p.D1902N

c.5704G>A

2 papers

NM_000051.4

p.D1902fs

c.5704_5705fs