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.D639H

c.1915G>C

Surrounding Variants

3 papers

NM_000051.4

p.D639fs

c.1915_1916fs

1 paper

NM_000051.4

p.D639insFs

c.1915_1916insT

2 papers

NM_000051.4

p.D639fs

c.1915_1916fs

2 papers

NM_000051.4

p.K638N

c.1914A>C

1 paper

NM_000051.4

p.D639G

c.1916A>G

2 papers

NM_000051.4

p.K638N

c.1914A>T

1 paper

NM_000051.4

p.D639E

c.1917T>G

2 papers

NM_000051.4

p.K638_D639insA

c.1912_1916ins3

1 paper

NM_000051.4

p.K640_E641insT

c.1918_1922ins3

6 papers

NM_000051.4

p.K640*

c.1918A>T

2 papers

NM_000051.4

p.E642del1

c.1924_1925delGAA

2 papers

NM_000051.4

p.Q637R

c.1910A>G