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.C465S

c.1394G>C

Surrounding Variants

1 paper

NM_000051.4

p.C465F

c.1394G>T

2 papers

NM_000051.4

p.C465S

c.1393T>A

1 paper

NM_000051.4

p.C465*

c.1395T>A

1 paper

NM_000051.4

p.C465R

c.1393T>C

2 papers

NM_000051.4

p.C465G

c.1393T>G

1 paper

NM_000051.4

p.C465W

c.1395T>G

1 paper

NM_000051.4

p.Q466fs

c.1396_1397fs

4 papers

NM_000051.4

p.Q466E

c.1396C>G

15 papers

NM_000051.4

p.Q466*

c.1396C>T

1 paper

NM_000051.4

p.L464L

c.1392G>A

2 papers

NM_000051.4

p.L464F

c.1392G>C

2 papers

NM_000051.4

p.L464F

c.1392G>T