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.E1139K

c.3415G>A

Surrounding Variants

1 paper

NM_000051.4

p.E1139_E1146delFs

c.3416_3438del23

1 paper

NM_000051.4

p.N1140D

c.3418A>G

1 paper

NM_000051.4

p.A1138T

c.3412G>A

1 paper

NM_000051.4

p.N1140S

c.3419A>G

1 paper

NM_000051.4

p.N1140I

c.3419A>T

1 paper

NM_000051.4

p.S1137R

c.3411T>A

1 paper

NM_000051.4

p.S1137S

c.3411T>C

1 paper

NM_000051.4

p.S1137R

c.3411T>G

2 papers

NM_000051.4

p.S1137N

c.3410G>A

1 paper

NM_000051.4

p.S1137T

c.3410G>C

1 paper

NM_000051.4

p.S1137R

c.3409A>C

1 paper

NM_000051.4

p.P1141T

c.3421C>A