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.T460P

c.1378A>C

Surrounding Variants

1 paper

NM_000051.4

p.T460fs

c.1378_1379fs

1 paper

NM_000051.4

p.T460insFs

c.1380dupG

1 paper

NM_000051.4

p.T460R

c.1379C>G

7 papers

NM_000051.4

p.T460M

c.1379C>T

1 paper

NM_000051.4

p.E461delFs

c.1381delG

1 paper

NM_000051.4

p.L459_T460insFs

c.1377_1378insA

2 papers

NM_000051.4

p.T460T

c.1380G>A

2 papers

NM_000051.4

p.T460T

c.1380G>C

1 paper

NM_000051.4

p.E461_E473del0

c.1382_1417del36

1 paper

NM_000051.4

p.L459R

c.1376T>G

1 paper

NM_000051.4

p.L459insFs

c.1377dupT

1 paper

NM_000051.4

p.L459V

c.1375C>G