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.D379A

c.1136A>C

Surrounding Variants

1 paper

NM_000051.4

p.D379N

c.1135G>A

3 papers

NM_000051.4

p.D379insFs

c.1135_1136insA

1 paper

NM_000051.4

p.D379E

c.1137T>G

8 papers

NM_000051.4

p.Y380N

c.1138T>A

4 papers

NM_000051.4

p.S378R

c.1134T>A

1 paper

NM_000051.4

p.Y380H

c.1138T>C

4 papers

NM_000051.4

p.S378R

c.1134T>G

1 paper

NM_000051.4

p.Y380D

c.1138T>G

11 papers

NM_000051.4

p.Y380_S381insFs

c.1139_1142dup4

2 papers

NM_000051.4

p.Y380fs

c.1138_1139fs

1 paper

NM_000051.4

p.Y380insFs

c.1139_1140ins4

1 paper

NM_000051.4

p.S378N

c.1133G>A