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

4 papers

NM_000051.4

p.T1953R

c.5858C>G

Surrounding Variants

8 papers

NM_000051.4

p.T1953I

c.5858C>T

3 papers

NM_000051.4

p.T1953A

c.5857A>G

1 paper

NM_000051.4

p.A1954fs

c.5860_5861fs

2 papers

NM_000051.4

p.F1952L

c.5856T>A

2 papers

NM_000051.4

p.F1952L

c.5856T>G

1 paper

NM_000051.4

p.L1955insFs

c.5864dupT

3 papers

NM_000051.4

p.A1954V

c.5861C>T

1 paper

NM_000051.4

p.F1952I

c.5854T>A

2 papers

NM_000051.4

p.F1952L

c.5854T>C

1 paper

NM_000051.4

p.A1954A

c.5862T>C

1 paper

NM_000051.4

p.F1952fs

c.5854_5855fs

2 papers

NM_000051.4

p.H1951Q

c.5853C>A