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.Y1442F

c.4325A>T

Surrounding Variants

1 paper

NM_000051.4

p.Y1442C

c.4325A>G

48 papers

NM_000051.4

p.Y1442H

c.4324T>C

1 paper

NM_000051.4

p.Y1442fs

c.4324_4325fs

2 papers

NM_000051.4

p.Y1442fs

c.4324_4325fs

1 paper

NM_000051.4

p.I1441M

c.4323A>G

6 papers

NM_000051.4

p.H1443Y

c.4327C>T

1 paper

NM_000051.4

p.Y1442_H1443delFs

c.4324_4328del5

1 paper

NM_000051.4

p.I1441V

c.4321A>G

6 papers

NM_000051.4

p.H1443Q

c.4329C>A

6 papers

NM_000051.4

p.H1443Q

c.4329C>G

1 paper

NM_000051.4

p.H1443H

c.4329C>T

1 paper

NM_000051.4

p.L1444fs

c.4330_4331fs